SNPMiner Trials by Shray Alag


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Report for Mutation V158M

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 26 clinical trials

Clinical Trials


1 Clinical Studies of Mental Illness Not Involving Treatment Development, Efficacy, or Effectiveness Trials Phenotype-genotype Predictors of Cognitive Outcomes in Geriatric Depression

Late-life depression (LLD) and cognitive impairment (CI) are significant public health problems among older adults, and their co-occurrence markedly increases disease burden and dementia risk. This highlights the importance of identifying and treating CI in LDD; however, current lack of reliable prognostic information from clinical, neuroimaging, and genetic data impedes research on targeted prevention and treatment. Two critical ways to close current knowledge gaps in predicting cognitive diagnostic outcomes of LLD involve: 1) increasing the number of diagnostic cases available to existing studies, and 2) using those studies to identify clinical, imaging, and genetic predictors that will improve future diagnosis. We intend to do both in the current proposal. We plan to study the following SPECIFIC AIMS: Aim 1: Identify baseline clinical-behavioral predictors of cognitive diagnostic outcomes in LLD. Working hypothesis: During acute LLD, CN will be associated with more frequent EOD and higher negative life stress than PCI and AD; PCI will be associated with EOD and higher frailty than CN and AD; AD will be associated with LOD, greater appetite loss, lower anxiety, and greater memory impairment than CN and PCI. Aim 2: Use multimodal neuroimaging at baseline to identify patterns associated with cognitive diagnostic outcomes in individuals with LLD. Working Hypothesis: CN will be associated with greater white matter integrity compared with PCI and AD; PCI will be associated with lower white matter integrity and network abnormalities in anterior cingulate cortex compared with CN; AD will be associated with lower hippocampal volume compared with CN and PCI. Aim 3: (exploratory): Explore interrelationships among candidate genes, cognitive diagnostic outcomes, and proposed phenotypic components relevant to LLD. Exploratory Hypotheses: 1) COMT val158met polymorphism will be associated with CN; 2) 5-HTTPRL and APOE ε2 polymorphisms will be associated with frailty; 3) genetic variation (SNPs) in TPH2 and AGTR1 will be associated with risk factors of AD: LOD, episodic memory, hippocampal volume, and appetite loss.

NCT00570583 Major Depression Dementia
MeSH: Dementia Depression Depressive Disorder
HPO: Dementia Depressivity

Exploratory Hypotheses: 1) COMT val158met polymorphism will be associated with CN; 2) 5-HTTPRL and APOE ε2 polymorphisms will be associated with frailty; 3) genetic variation (SNPs) in TPH2 and AGTR1 will be associated with risk factors of AD: LOD, episodic memory, hippocampal volume, and appetite loss. --- val158met ---

Specifically, CN individuals will have earlier first onset of depression (EOD) relative to AD, more negative life stress during acute depression compared with AD and PCI, and greater white matter integrity; CN will also be associated with the AA genotype of the COMT val158met polymorphism, which may confer both neuroprotection and higher stress sensitivity. --- val158met ---

Primary Outcomes

Measure: Change in Depression status (measured by Montgomery Asberg Depression Rating Scale)

Time: Minimum of once per year, up to 21 years

Measure: Change in Cognitive impairment (as measuring using cognitive tests including those found in the CERAD battery)

Time: Once per year, up to 21 years

Measure: Development of dementia (Determined by Clinical Consensus Conference)

Time: once per year, up to 14 years

Secondary Outcomes

Measure: Change in Cognition (as measured by tests including those in the CERAD battery) Change in Brain MRI markers (e.g., volume of white matter and gray matter lesions)

Time: once per year, up to 21 years

Measure: Change in Impairment in Instrumental or Basic Activities of Daily Living

Time: at least once per year, up to 21 years

Measure: Packing density of prefrontal cortex neurons with pyramidal morphology in post-mortem neuroanatomical studies

Time: once post-mortem

2 The Effect of Perioperative Intravenous Low-dose Ketamine on Acute and Chronic Neuropathic Pain After Major Back Surgery. A Randomised, Placebo-controlled, Double-blind Study

After a surgical operation, patients may suffer from chronic pain. Ketamine, a well known anesthetic acts on receptors in the spine (NMDA receptors), which are implied in the occurrence of chronic pain. The mechanism is called central sensation. It is known that Ketamine reduces immediate postoperative pain, but its effectiveness in the prevention of the chronic pain is still unknown. The investigators study will follow patients until one year after operation for the occurrence of chronic pain. The investigators hypothesis is that Ketamine reduces significantly chronic postoperative pain after major back surgery and improves patient outcome. There may be important inter-individual differences how persons react on a drug. These differences are partly determined by the genes of each individual. The investigators study includes therefore a genetic analysis. Psychological and social factors also influence the perception of pain. It is still not well understood who these "psychosocial factors" determine the appearance and perception of chronic pain. In the investigators study the investigators will therefore study these factors by questionnaires.

NCT00618423 Postoperative Pain Drug: Placebo Drug: Ketamine
MeSH: Pain, Postoperative

As for pain sensitivity and morphine response variability, the met allele at the val158met polymorphisms in the catechol-O-methyltransferase gene (COMT), reduces the ability of the enzyme to metabolize catecholamines, and has been associated with a decrease in opioid consumption in cancer pain patients. --- val158met ---

Primary Outcomes

Measure: To evaluate the long-term (6 and 12 months) effect of perioperative intravenous low-dose ketamine on chronic neuropathic pain in patients undergoing major back surgery.

Time: one year

Secondary Outcomes

Measure: To evaluate the short-term (during hospitalisation) effect of perioperative intravenous low-dose ketamine in patients undergoing major back surgery: tolerability and safety, opioid-sparing effect, pain intensity, morphine-related adverse effects.

Time: one week

Measure: To study the potential impact of genetic variability of several enzymes (CYP2D6, CYP2C9, COMT) known to modulate pain sensitivity and/or metabolism of opioid and NSAIDs on analgesic consumption and ketamine response.

Time: immediate

Measure: To study psychosocial factors that may be involved in the perception of acute and chronic postoperative pain in patients with or without chronic back pain undergoing back surgery.

Time: one year

Measure: To study the pharmakokinetics of an intravenous low-dose ketamine infusion.

Time: one day

3 Age-17 Follow-up of Home Visiting Intervention

This study is a longitudinal follow-up of 670 primarily African-American women and their 17-year-old firstborn children enrolled since 1990 in a highly significant randomized controlled trial (RCT) of prenatal and infancy home visiting by nurses. Nurses in this program are charged with improving pregnancy outcomes, child health and development, and maternal economic self-sufficiency. This follow-up examines whether earlier program effects on maternal and child functioning lead to less violent antisocial behavior, psychopathology, substance use and use-disorders, and risk for HIV; whether these effects are greater for those at both genetic and environmental risk; and whether program effects replicate those found with whites in an earlier trial.

NCT00708695 Antisocial Behavior Psychopathology Substance Use HIV Infections Behavioral: Nurse Home Visiting
MeSH: HIV Infections

2. Effects on youth violent antisocial behavior, SUDs, and risky sexual behavior will be more pronounced among males with the MAOA-LPR low activity alleles compared to males with MAOA-LPR high activity alleles, and among both males and females with 2 copies of the high-activity Val allele of the COMT Val158Met polymorphism compared to those with 2 copies of the low-activity met allele or heterozygotes. --- Val158Met ---

Primary Outcomes

Description: Public benefit expenditures estimated from review of state administrative records and maternal report of all children's birth dates. Program effects on public-benefit expenditures hypothesized to be especially pronounced for mothers with higher psychological resources.

Measure: Maternal life-course (reflected in reduced total public benefit expenditures for SNAP, AFDC/TANF, and Medicaid).

Time: through first child age 18

Description: Direct tests of youth cognitive, language, and academic functioning. Program effects in this domain hypothesized to be most pronounced for children born to mothers with low psychological resources.

Measure: Cognitive, language, and academic functioning among first-born children.

Time: at youth age 18

Description: Measure of internalizing disorders based upon youth self-report.

Measure: Youth depression and anxiety

Time: at youth age 18

Description: Self-reported involvement with criminal justice system and antisocial behavior. Program effects on arrests and convictions hypothesized to be greater for females.

Measure: Youth gang membership, arrests, convictions, and self-reported antisocial behavior, especially for crimes involving interpersonal violence.

Time: at youth age 18

Description: Outcomes based upon self-report and urine assays for STI's and substance use.

Measure: Youth risk for HIV infection, pregnancies, births, use of substances, and SUDs.

Time: at youth age 18.

Secondary Outcomes

Description: Based upon maternal self-report of SUDs and depression.

Measure: Reduced maternal substance use disorders (SUDs) and depression.

Time: at youth age 18

Description: Based upon direct tests of risky decision making, impulsivity, facial recognition, verbal working memory) and records of high school graduation. Program effects in this domain hypothesized to be more pronounced for children born to mothers with low psychological resources.

Measure: Improved child executive cognitive functioning, and rates of high school graduation.

Time: at youth age 18

Other Outcomes

Description: Self-reported number of subsequent pregnancies, pregnancy outcomes, live births, low-birth weight newborns, and birth dates. Program effects on cumulative pregnancies and births hypothesized to be more pronounced among mothers with high psychological resources.

Measure: Cumulative subsequent pregnancies - mothers

Time: through youth age 18

Description: Self-reported pregnancies and pregnancy outcomes.

Measure: Pregnancies - youth

Time: through youth age 18

Description: Self-reported duration and quality of relationship, cohabitation, marriage, partner employment, and relationship to first-born child

Measure: Relationship with Current Partner

Time: at youth age 18

4 Genetic Association Study Between Single Nucleotide Polymorphisms (SNPs) and Cognitive Performance in Young Bipolar Type I Patients: LICAVALGENE

This is a genetic association study of cognitive impairment in young bipolar disease type I patients without medications in mania, depression, hypomania or mixed states.

NCT00969930 Bipolar

Methods: 80 patients with BD type I (SCID DSM-IV), age from 18 to 35 years old, currently on mania, depression, hypomania or mixed state after medication wash out will be submitted to complete neuropsychological evaluation and genotyped for COMT (val158met, rs165599, -287, rs737865), ApoE (epsilon 4) and BDNF (val66met)and 80 healthy controls. --- val158met ---

Primary Outcomes

Measure: Cognitive deficits in BD patients are associated with COMT, ApoE and BDNF polymorphisms

Time: 18 months

5 Remediation of Working Memory in Schizophrenia

The primary aim of the study is to test the efficacy of a novel cognitive remediation intervention that targets working memory-related functions. To accomplish this goal, 80 volunteer patients with schizophrenia will be enrolled and randomized to either a cognitive remediation condition that targets working memory or a computer skills training intervention that teaches computer applications. In both conditions participants will receive computer training three times a week for 4 months. The investigators hypothesize that patients who receive the cognitive remediation intervention will demonstrate significantly greater change on neuropsychological measures of working memory and executive abilities than patients who receive the computer skills course. In addition, the investigators hypothesize that the intervention-induced cognitive change will be associated with concurrent improvements in functional capacity and psychosocial functioning in the community. A second study goal is to examine the stability of the intervention-induced changes in cognition. Cognition and psychosocial functioning will be reassessed 4 and 8 months after treatment termination to examine the stability of treatment effects and to assess whether a less intense maintenance training (once a week sessions) provides any additional benefit to participants. Lastly, this study will examine in an exploratory manner whether there are individual differences in treatment response. The Val158Met polymorphism of the COMT gene has been found to be associated with working memory and prefrontal dysfunction in schizophrenia. The study will test whether the COMT polymorphism is predictive of response to cognitive remediation.

NCT00995553 Schizophrenia Schizoaffective Disorder Behavioral: Cognitive Remediation Behavioral: Computer Skills
MeSH: Schizophrenia Psychotic Disorders
HPO: Psychosis Schizophrenia

The Val158Met polymorphism of the COMT gene has been found to be associated with working memory and prefrontal dysfunction in schizophrenia. --- Val158Met ---

Primary Outcomes

Description: The Working Memory and Attention indexes of the MATRICS Consensus Cognitive Battery was used to assess near generalization of training with untrained tasks that were conceptually similar to training tasks. Each scale provide an age and gender corrected T-score. Thus, scores can range from 0-100, with a higher score indicating better performance.

Measure: Cognitive Assessment - MATRICS Consensus Cognitive Battery

Time: Post-intervention, within 2 weeks of completion of the 4 month intervention

Secondary Outcomes

Description: The UPSA is a measure of the ability to apply cognitive skills to functional tasks. The total score from this scale was used. Scores may range from 0 - 100, with higher scores being better.

Measure: Functional Capacity - University of California, San Diego Performance-Based Skills Assessment

Time: Post-intervention, within 2 weeks of completion of the 4 month intervention

6 A Pharmacotherapy Study: A Dose Response Effect of Atomoxetine on Alcohol-elicited Craving and Sensitivity to the Acute Effects of Alcohol

This two-stage study will examine the effects of a 5 day course of atomoxetine (placebo, 40, 60 or 80 mg/day; Strattera) (a selective NE transporter (NET) inhibitor) on alcohol-elicited craving and sensitivity to alcohol. The novelty of this study is that of atomoxetine and the fact that it targets NET, neither of which has heretofore been examined in the context of alcohol dependence. It is hopeful that this pilot study, of 86 total individuals, will provide the PI with sufficient preliminary data to submit a subsequent R01 application to study atomoxetine and the involvement of specific single nucleotide polymorphisms within the NET gene on alcohol-related phenotypes in alcohol dependent and non-dependent populations. The long-term objective of this research is to develop more efficacious treatment interventions for alcohol abuse and dependence. Hypothesis 1: It is hypothesized that subjects who receive 40, 60 or 80 mg/day of atomoxetine for 5 days will demonstrate significantly less alcohol-elicited craving than subjects who receive a placebo. Hypothesis 2: It is hypothesized that subjects who receive 40, 60 or 80 mg/day of atomoxetine for 5 days will be less sensitive to the acute effects of alcohol (subjective intoxication) than subjects who receive a placebo.

NCT01408589 Alcohol Craving Mood Changes Drug: Atomoxetine, Strattera

COMT Val158Met (G/A), Val > Met 2-4x plasma activity DBH -1021 C/T, C/C has 3x more plasma activity NET gene variants were also examined. --- Val158Met ---

Primary Outcomes

Description: Alcohol craving and sensitivity were measured with the AUQ, ARS, POMS, BAES and SHAS

Measure: Alcohol Craving

Time: Day 5 of medication

Secondary Outcomes

Description: To determine whether two functional SNPs within the COMT and DBH genes moderate the effects of EtOH and or atomoxetine. COMT Val158Met (G/A), Val > Met 2-4x plasma activity DBH -1021 C/T, C/C has 3x more plasma activity NET gene variants were also examined

Measure: Genetic moderation

Time: day 5 of medication

7 Biomarker Strategies for Medication-Enhanced Cognitive Training in Schizophrenia

Cognitive training is moderately effective at reducing symptoms and improving life function in schizophrenia patients. The present application develops a strategy for increasing the effectiveness of cognitive training through the use of pro-cognitive medications. Specific biomarkers will be studied that identify patients most sensitive to these pro-cognitive medications, to test the feasibility of using these biomarkers in a large clinical trial of medication-enhanced cognitive training in schizophrenia.

NCT01555697 Schizophrenia Drug: Memantine Drug: Placebo
MeSH: Schizophrenia
HPO: Schizophrenia

PPI-enhancing effects of MEM in healthy subjects are associated with: 1) increased WM; and 2) phenotypes linked to the high activity Val158Met COMT polymorphism. --- Val158Met ---

Primary Outcomes

Description: Prepulse inhibition of the startle reflex

Measure: Prepulse inhibition

Time: 3 years

Secondary Outcomes

Description: MATRICS Consensus Cognitive Battery Performance

Measure: MATRICS

Time: 3 years

8 COMT Val158Met Polymorphism in Opiate-using Subjects Without Lifetime Opiate Dependence

The main objective is to compare the genotypes of the COMT Val158Met polymorphism between opiate-users and opiate-dependent subjects. The secondary objective is to constitute a sample of opiate-users without any lifetime opiate dependence.

NCT01570699 Opioid-related Disorders Opiate Dependence Opiate Addiction Opiate Abuse Genetic: COMT polymorphism
MeSH: Opioid-Related Disorders

COMT Val158Met Polymorphism in Opiate-using Subjects Without Lifetime Opiate Dependence. --- Val158Met ---

Variation of COMT Val158Met Polymorphism Between COM-ON Patients and METHADOSE Patients The main objective is to compare the genotypes of the COMT Val158Met polymorphism between opiate-users and opiate-dependent subjects. --- Val158Met ---

Variation of COMT Val158Met Polymorphism Between COM-ON Patients and METHADOSE Patients The main objective is to compare the genotypes of the COMT Val158Met polymorphism between opiate-users and opiate-dependent subjects. --- Val158Met --- --- Val158Met ---

Inclusion Criteria: - Patient over 18 years old - Caucasian patients - Clinical diagnosis of lifetime opiate-using disorder (consumption over 10 times of illicit opiates (heroin, buprenorphine, methadone or morphine)) - Not lifetime history of opioid dependence (DSMIV) - Patients with health insurance coverage - Patient was treated with opioids analgesics to alleviate 2 or 3 in their lives Exclusion Criteria: - Non-Caucasian patients - Patients who cannot give their consent and/or who refuse the collection of genetic data - Patients with no health insurance coverage Inclusion Criteria: - Patient over 18 years old - Caucasian patients - Clinical diagnosis of lifetime opiate-using disorder (consumption over 10 times of illicit opiates (heroin, buprenorphine, methadone or morphine)) - Not lifetime history of opioid dependence (DSMIV) - Patients with health insurance coverage - Patient was treated with opioids analgesics to alleviate 2 or 3 in their lives Exclusion Criteria: - Non-Caucasian patients - Patients who cannot give their consent and/or who refuse the collection of genetic data - Patients with no health insurance coverage Opioid-related Disorders Opiate Dependence Opiate Addiction Opiate Abuse Opioid-Related Disorders The COMT enzyme enables the degradation of brain monoamines such as Dopamine and is encoded by a single gene for which several polymorphisms are known, including the Val158Met polymorphism which has been widely studied in various psychiatric disorders, including addictions, as well as in impulsivity. --- Val158Met ---

Primary Outcomes

Measure: Number of subjects with each COMT genotype (Val/Val, Val/Met and Met/Met) in the opiate-users' group and in the opiate-dependent subjects' group

Time: Day 0

Secondary Outcomes

Measure: Score on the M.I.N.I. (Mini-International Neuropsychiatric Interview) on the day of the inclusion

Time: Day 0

Measure: Score on the BIS (Barratt Impulsivity Scale) on the day of the inclusion

Time: Day 0

Measure: Score on the TCI (Cloninger's Temperament and Character Inventory) on the day of the inclusion

Time: Day 0

Measure: Score on the WURS (Wender Utah Rating Scale) on the day of the inclusion

Time: Day 0

Measure: Score on the ASRS(Self-Report Scale) on the day of the inclusion

Time: Day 0

Measure: Score on the MOPS (Measure Of Parental Style) on the day of the inclusion

Time: Day 0

Measure: Score on the Questionnaire of family breakdowns on the day of the inclusion

Time: Day 0

Measure: Score on the CD-RISC (Connor-Davidson Resilience scale) on the day of the inclusion

Time: Day 0

Measure: Score on the CTQ (Childhood trauma questionnaire) on the day of the inclusion

Time: Day 0

9 Clozapine for Cannabis Use Disorder in Schizophrenia

Many individuals with schizophrenia also suffer from marijuana addiction that worsens their problems related to schizophrenia. Most of the medications prescribed for schizophrenia have no effect on reducing marijuana use. Preliminary data suggests that clozapine, an atypical antipsychotic, may limit marijuana use in people diagnosed with schizophrenia, but it is not commonly used due to its side effects and is reserved for people who do not respond to other antipsychotic medications. In the proposed study, 132 individuals who are diagnosed with both schizophrenia and a cannabis use disorder will be randomized to a 12-week treatment course with either clozapine or risperidone (another commonly prescribed antipsychotic medication) to test the hypothesis that patient treated with clozapine will have decreased cannabis use as compared to patients treated with risperidone. Should this study indicate that clozapine will lessen marijuana use in persons diagnosed with schizophrenia more than risperidone, it will provide evidence needed to begin to shift clinical practice toward its use in this population.

NCT01639872 Schizophrenia Cannabis Abuse Cannabis Dependence Dual Diagnosis Drug: Clozapine Drug: Risperidone
MeSH: Marijuana Abuse Schizophrenia
HPO: Schizophrenia

Finally, this study will explore whether those patients with the val/val genotype at the Catechol-O-methyltransferase (COMT) Val158Met locus are more likely to decrease cannabis use during CLOZ treatment than are those without the val/val COMT genotype. --- Val158Met ---

Primary Outcomes

Description: Intensity of cannabis use is obtained each week retrospectively as the number of joints smoked during the prior week (assessed using the Timeline Followback). Mixed models are used to obtain estimates of efficacy from the partial data provided by each subject while adherent to assigned treatment (under the 'missing at random' assumption). The 'explanatory' estimands (target of the mixed model estimation) are defined in terms of population quantities that would have occurred had all subjects remained on assigned treatment throughout the study. The point estimate for each arm is reported under Number.

Measure: Average Over Time of Intensity of Cannabis Use (Used to Evaluate Treatment Efficacy)

Time: 12 weeks

Description: Frequency of cannabis use is obtained each week retrospectively as the number of days of cannabis use during the prior week (assessed using the Timeline Followback). Mixed models are used to obtain estimates of efficacy from the partial data provided by each subject while adherent to assigned treatment (under the 'missing at random' assumption). The 'explanatory' estimands (target of the mixed model estimation) are defined in terms of population quantities that would have occurred had all subjects remained on assigned treatment throughout the study. The point estimate for each arm is reported under Number.

Measure: Average Over Time of Frequency of Cannabis Use

Time: 12 weeks

10 Normalization of dyrk1A and APP Function as an Approach to Improve Cognitive Performance and Decelerate AD Progression in DS Subjects: Epigallocatechin Gallate as Therapeutic Tool

Epigallocatechin-3-gallate (EGCG), the major catechin in green tea, is postulated to modulate dual specificity tyrosine-phosphorylation-regulated kinase 1A (DYRK1A) and amyloid beta precursor protein (APP) gene overexpression in the brains of Down syndrome mouse models. The clinical study is aimed at demonstrating that normalization of Dyrk1A and APP functions is a therapeutic approach to improve cognitive performance and decelerate AD (Alzheimer's disease) like progression.

NCT01699711 Down Syndrome (DS) Dietary Supplement: Epigallocatechin-3-gallate (EGCG)
MeSH: Down Syndrome

COMT val158met genetic polymorphism (catechol methyl transferase) (Taqman). --- val158met ---

Primary Outcomes

Description: a.Intelligence Quotient [Kaufman (K-BIT)], b.Attention [Spatial Span direct series (SSP), Choice Reaction Time (CRT) CANTAB battery]c. Psychomotor Speed [ (MOT) CANTAB battery] d.Episodic Memory [visuospatial: Paired Associates Learning (PAL) and visual: Pattern Recognition Memory (PRM) CANTAB battery; visuospatial learning Cued Recall Test (CRT) ] e.Executive Functions [working memory: SSP CANTAB battery; verbal semantic fluency; inhibition: Cats and Dogs; planning: Tower of London-Drexel (TOLDX) mental flexibility: Weigl Card Sorting Test ] f.Language:[ Expressive language: Boston naming test (BNT) ; Receptive language: Token Test (TT) g.Functional, quality of life and neuropsychiatric evaluation [Adaptative Behaviour Assessment System (ABAS-II): Dementia Questionnaire for People with Intellectual Disabilities (DMR): Neuropsychiatric Inventory (NPI); quality of life: Kidscreen; semi-structured interview to evaluate subjective effects concerning relevant changes.

Measure: Change in Cognitive Evaluation

Time: From predose baseline to 19 months (end of treatment)

Description: APP derived amyloid peptides in plasma (INNO-BIA)

Measure: Change in Amyloidosis Biomarkers

Time: From predose baseline to 19 months (end of treatment)

Secondary Outcomes

Measure: Treatment compliance

Time: Predose baseline 3, 7, 13 months

Description: LDL (Low density lipoproteins), HDL (High density lipoprotein, cholesterol, triglycerides oxidized-LDL (Pentra Autoanalyzer, and ELISA Mercodia for LDLox

Measure: Change in Biomarkers of lipid oxidation

Time: Predose baseline: 3, 7, 13 months

Description: Plasma homocysteine (Abbot AxyM), transthyretrin (ELISA) FOXO1 (DNA-binding ELISA nuclear extract from lymphocytes)

Measure: Change in DYRK1A activity biomarkers

Time: Predose baseline 4 , 7 and 13 and 19 moths (end of treatment plus 6 months).

Measure: COMT val158met genetic polymorphism (catechol methyl transferase) (Taqman)

Time: Predose baseline

Measure: Change in AST (SGOT -serum glutamic oxaloacetic transaminase-) and ALT (SGPT- Serum Glutamic Pyruvate Transaminase-) (Pentra Autoanalyzer, and ELISA Mercodia for LDLox)

Time: Predose baseline 4 , 7 and 13 and 19 moths (end of treatment plus 6 months).

Measure: Change in Body Composition by electrical impedance (TANITA-MC-180)

Time: Predose baseline 4 , 7 and 13 and 19 moths (end of treatment plus 6 months).

Description: Parameters to be evaluated: (i) Motor threshold at Rest (MTR) for the Abductor Pollicis Brevis ( APB) muscle determination (ii) Basal single pulse response at rest for the APB at 110 of the MTR required, and (iii) Percentage of increase and decrease of the amplitude of the APB after double pulse, short and long pulse interval after transcranial magnetic stimulation (TMS).

Measure: Changes in Neurophysiology

Time: Predose baseline: 7, 13 months

Description: Regional brain morphology and volume (FLAIR) sequence to assess possible white matter tissue macroscopic lesions), brain function in disease-specific neural systems: Intrinsic functional organization (i.e., functional connectivity) in the resting-state within the neural systems.

Measure: Changes in Neuroimaging

Time: Predose baseline: 7, 13 months

11 Dexamethasone for the Treatment of Established Postoperative Nausea and Vomiting - a Randomised, Placebo-controlled, Dose-finding Study

Postoperative nausea and vomiting (PONV) are frequent after surgery and anaesthesia. Dexamethasone is widely used as antiemetic for the prevention of PONV. Little is known about the efficacy of antiemetic drugs for the treatment of established PONV symptoms. No single randomised trial has been published so far that tests the efficacy of dexamethasone for the treatment of established PONV symptoms. In this trial the investigators want to test the antiemetic efficacy of three different doses of intravenous dexamethasone for the treatment of established PONV symptoms. In adjunct protocols of this study the investigators aim to establish a novel method to quantify the anti-nausea efficacy of an antiemetic drug, to study pharmacogenetics of PONV, and to further our understanding on the smoking status as a predictive factor of PONV.

NCT01975727 Postoperative Nausea and Vomiting Vomiting Drug: Placebo Drug: Dexamethasone 3 mg Drug: Dexamethasone 6 mg Drug: Dexamethasone 12 mg
MeSH: Nausea Vomiting Postoperative Nausea and Vomiting
HPO: Nausea Vomiting

The COMT enzyme possesses a frequent non-synonymous polymorphism that encodes for the substitution of valine (Val) by methionine (Met) at codon 158 (Val158Met). --- Val158Met ---

The COMT Val158Met polymorphism (rs4680) will be genotyped using a commercially available TaqMan® SNP genotyping assay (C_25746809_50, Applied Biosystems, Warrington, UK). --- Val158Met ---

Primary Outcomes

Description: Complete absence of any nausea and/or vomiting (including retching) in a previously nauseated or vomiting patient within 24 hours after administration of the study treatment.

Measure: Treatment efficacy of Dexamethasone for established PONV

Time: 24 hour follow up

Secondary Outcomes

Description: Free from PONV during the first 6 hours

Measure: Short term efficacity

Time: 6 hours

Description: Number of patients staying PONV free after rescue antiemetic during the first 24 postoperative hours

Measure: PONV free after rescue antiemtic

Time: 24 hour follow up

Description: quality of sleep during the first postoperative night (numerical rating scale ranging from 0 = no sleep at all to 10 = excellent sleep)

Measure: Quality of sleep

Time: 24 hour follow up

Description: any minor or major adverse effects during 24h.

Measure: Minor or major adverse effects

Time: 24 hour follow up

12 A Randomized, Double-blind, Placebo-controlled Examination of the Effects of Tolcapone (TASMAR) on Vigilance in Healthy Volunteers After Sleep Deprivation

In this study, pharmacologic effects of COMT inhibition during sleep deprivation in healthy subjects in dependence of their Val158Met genotype of COMT are studied. Potential effects are identified by measurement of vigilance and cognitive performance as well as EEG measurements during wake and sleep. - Trial with medicinal product

NCT02080715 Healthy Drug: Tolcapone Drug: Placebo

Role of the Catechol-O-methyltransferase (COMT) in the Physiological Regulation of Vigilance In this study, pharmacologic effects of COMT inhibition during sleep deprivation in healthy subjects in dependence of their Val158Met genotype of COMT are studied. --- Val158Met ---

Primary Outcomes

Description: Vigilance is measured subjectively (questionnaires and visual analogue scales) and objectively (e.g., psychomotor vigilance task: reaction times and number of lapses; waking EEG: spectral power) at 3-hour intervals during 40 hours prolonged wakefulness in 30 healthy male adults.

Measure: Evolution of vigilance during prolonged wakefulness after intake of tolcapone when compared to placebo

Time: Participants will be studied during two weeks

13 Mechanism of tDCS-induced Learning Enhancement - the Role of Serotonin

The aim of this study is to assess whether the application of a selective serotonin reuptake inhibitor (SSRI) enhances and prolongs the learning enhancement achieved by anodal transcranial direct current stimulation (atDCS). For this, young and older healthy subjects will be tested with a well established learning paradigm. Results of this study may help to support the application of atDCS also in patients, e.g. with dementia or mild cognitive impairment.

NCT02092974 Healthy Young and Older Adults Procedure: tDCS Drug: Citalopram Other: sham-tDCS + placebo

To assess predictors of SSRI-enhanced brain stimulation, genotyping of several learning related polymorphisms will be performed (i.e., APOE, BDNF, Val66Met, COMT, Val158Met, KIBRA, rs17070145, 5-Hydroxytryptamine transporter).. Inclusion Criteria: - right handedness - unobtrusive neuropsychological screening - ability to provide written informed consent - no pathological findings in head MRI - age: 18 to 35 years (young adults) or 50-80 years (older adults) - Highly effective contraception (Pearl Index < 1) or reliable abstinence from any heterosexual relationships in women of childbearing potential Exclusion Criteria: - severe internal or psychiatric disease (especially depression or suicidal thoughts) - epilepsy - cognitive impairment (< SD under age adjusted norm in neuropsychological testing) - concurrent taking of serotonin precursors (tryptophan, 5-HTP) or MAO inhibitors - concurrent taking of tramadol or triptans - concurrent taking of pimozide or linezolid - concurrent taking of other drugs prolonging the QT-interval - long-QT-syndrome - hypokalemia or hypomagnesemia - known intolerance of the study medication - claustrophobia or metallic implants, tattoos (MRI exclusion criteria) - pregnancy or lactation - participation in another drug-interventional clinical trial within the last month or during the entire study - probands that are placed in an institution due to official or judicial order - non-agreement to save and transmit pseudonymised study data within the clinical trial Inclusion Criteria: - right handedness - unobtrusive neuropsychological screening - ability to provide written informed consent - no pathological findings in head MRI - age: 18 to 35 years (young adults) or 50-80 years (older adults) - Highly effective contraception (Pearl Index < 1) or reliable abstinence from any heterosexual relationships in women of childbearing potential Exclusion Criteria: - severe internal or psychiatric disease (especially depression or suicidal thoughts) - epilepsy - cognitive impairment (< SD under age adjusted norm in neuropsychological testing) - concurrent taking of serotonin precursors (tryptophan, 5-HTP) or MAO inhibitors - concurrent taking of tramadol or triptans - concurrent taking of pimozide or linezolid - concurrent taking of other drugs prolonging the QT-interval - long-QT-syndrome - hypokalemia or hypomagnesemia - known intolerance of the study medication - claustrophobia or metallic implants, tattoos (MRI exclusion criteria) - pregnancy or lactation - participation in another drug-interventional clinical trial within the last month or during the entire study - probands that are placed in an institution due to official or judicial order - non-agreement to save and transmit pseudonymised study data within the clinical trial Healthy Young and Older Adults null --- Val66Met --- --- Val158Met ---

Primary Outcomes

Description: Recall score immediately after learning phase (=training of visual-spatial abilities) under tDC stimulation + SSRI application compared to learning under tDC stimulation + placebo.

Measure: Recall score after learning under tDC stimulation + SSRI compared to learning under tDC stimulation + placebo.

Time: immediately after end of learning phase (approx. 1 hour)

Secondary Outcomes

Description: Measurement of recall scores on the evening of the same day after the learning phase (+tDCS + SSRI), the morning of the day after and 1 week later in order to assess the prolongation of atDCS induced learning enhancement by the SSRI.

Measure: prolongation of the atDCS induced learning enhancement by SSRI

Time: 1 week

Description: Measurement of recall scores directly after learning phase after application of atDCS + placebo or sham-tDCS + SSRI vs. sham-tDCS + placebo.

Measure: Increase of learning enhancement by atDCS + placebo or sham-tDCS + SSRI vs. sham-tDCS + placebo

Time: immediately after learning phase (approx. 1 hour)

Description: Measurement of recall scores on the evening of the same day of learning phase, the morning of the day after and 1 week later under application of atDCS + placebo or sham-tDCS + SSRI vs. sham-tDCS + placebo, in order to assess prolongation of learning enhancement by SSRI.

Measure: prolongation of learning enhancement by atDCS + placebo or sham-tDCS + SSRI vs. sham-tDCS + placebo

Time: 1 week

Description: To assess predictors of SSRI-enhanced brain stimulation, genotyping of several learning related polymorphisms will be performed (i.e., APOE, BDNF, Val66Met, COMT, Val158Met, KIBRA, rs17070145, 5-Hydroxytryptamine transporter).

Measure: genotyping of learning related polymorphisms

Time: once

14 Modulation of Visual-Spatial Learning in Patients With Mild Cognitive Impairment (MCI) by Transcranial Direct Current Stimulation - Proof of Principle and Mechanisms

The aim of this study is to investigate whether a combination of intensive training of visual-spatial abilities (LOCATO task) with anodal transcranial direct current stimulation (tDCS) leads to an improvement in learning and memory in patients with mild cognitive impairment (MCI) and to examine the underlying neuronal mechanism.

NCT02110043 Mild Cognitive Impairment (MCI) Device: tDCS Behavioral: training
MeSH: Cognitive Dysfunction
HPO: Cognitive impairment Mental deterioration

To assess predictors of positive reaction to brain stimulation, genotyping of several learning related polymorphisms will be performed (i.e., APOE, BDNF Val66Met, COMT Val158Met).. Inclusion Criteria (MCI patients): - right handedness - amnestic and amnestic plus MCI with: 1. subjective memory impairment; 2. objective memory difficulties, at least 1 SD below gender, age and education adjusted standard values; 3. relatively normal performance in other cognitive domains; 4. no constraints in activities of daily livings 5. age: 50-90 years Exclusion Criteria: - severe internal or psychiatric disease - epilepsy - other severe neurological diseases, e.g. --- Val66Met --- --- Val158Met ---

Primary Outcomes

Description: Investigation whether the combination of intensive visual-spatial training (LOCATO task) and tDCS leads to improvement of visual-spatial learning and memory measured by performance in LOCATO task after end of a 3 day period of training compared to sham stimulation.

Measure: Performance in LOCATO task (Visual-spatial learning and memory) after a combination of intensive visual-spatial training and tDCS

Time: immediately after end of a 3-day period of training in tDCS condition vs sham condition

Secondary Outcomes

Description: long term effects measured by performance in LOCATO task in tDCS condition after end of cognitve training and after 1 month compared to control conditions

Measure: long term effects

Time: after 1 month vs baseline

Description: Connectivity (measured by resting-state fMRT and correlation analysis) at baseline compared to end of 3 day period of training

Measure: functional changes: Connectivity

Time: end of 3-day cognitive training vs baseline

Description: cortical excitability measured by transcranial magnetic stimulation (TMS)

Measure: cortical excitability

Time: at baseline

Description: quality of life as measured by standardized questionaire at baseline compared to quality of life measured 1 month after intervention (training and stimulation vs. training and sham-stimualtion)

Measure: Quality of Life

Time: after 1 month vs baseline

Description: memory performance tested at baseline compared to memory performance after the end of a 3-day cognitive training period and after 1 month (posttraining) in training and stimulation vs. training and sham stimulation

Measure: memory

Time: immediately after end of 3-day of cognitive training, after 1 month vs. baseline

Description: affective state measured at baseline compared to affective state measured after the end of a 3-day cognitve training period and after 1 month (posttraining) in training and stimulation vs. training and sham stimulation

Measure: affective state

Time: immediately after the end of 3-day cognitive training, after 1 month vs. baseline

Description: To assess predictors of positive reaction to brain stimulation, genotyping of several learning related polymorphisms will be performed (i.e., APOE, BDNF Val66Met, COMT Val158Met).

Measure: genotyping of learning related polymorphisms

Time: once

15 Modulation of Visual-Spatial Learning in Healthy Older Adults by Transcranial Direct Current Stimulation - Proof of Principle and Mechanisms

The aim of this study is to investigate whether a combination of intensive training of visual-spatial abilities (LOCATO task) with anodal transcranial direct current stimulation (tDCS) leads to an improvement of learning and memory in healthy older adults and to examine the underlying neuronal mechanism.

NCT02110056 Healthy Older Adults Device: tDCS Behavioral: training

To assess predictors of positive reaction to brain stimulation, genotyping of several learning related polymorphisms will be performed (i.e., APOE, BDNF Val66Met, COMT Val158Met).. Inclusion Criteria (old healthy controls): - right handedness - unobtrusive neuropsychological screening - age: 50-90 years Exclusion Criteria: - severe internal or psychiatric disease - epilepsy - other severe neurological diseases, e.g. --- Val66Met --- --- Val158Met ---

Primary Outcomes

Description: Investigation whether the combination of intensive visual-spatial training (LOCATO task) and tDCS leads to an improvement of visual-spatial learning and memory measured by performance in LOCATO task after end of a 3 day training period compared to sham stimulation.

Measure: Performance in LOCATO task (Visual-Spatial learning and memory) after a combination of intensive visual-spatial training and tDCS

Time: immediately after the end of a 3 day training period in tDCS condition compared to sham condition

Secondary Outcomes

Description: long term effects measured by performance in LOCATO task after end of training and after 1 month compared to control condition

Measure: long term effects

Time: after 1 month vs baseline

Description: Connectivity (measured by resting-state fMRT and correlation analysis) at baseline compared to end of 3 day period of training

Measure: functional changes: Connectivity

Time: after end of 3-day period of training vs baseline

Description: measured by transcranial magnetic stimulation (TMS) at baseline

Measure: cortical excitability

Time: at baseline

Description: quality of life as measured by standardized questionaire at baseline compared to quality of life measured 1 month after intervention (training and stimulation vs. training and sham-stimualtion)

Measure: Quality of life

Time: after 1 month vs baseline

Description: memory performance tested at baseline compared to memory performance after the end of a 3-day cognitive training period and after 1 month (posttraining) in training and stimulation vs. training and sham stimulation

Measure: memory

Time: immediately after end of 3-day of cognitive training, after 1 month vs. baseline

Description: affective state measured at baseline compared to affective state measured after the end of a 3-day cognitve training period and after 1 month (posttraining) in training and stimulation vs. training and sham stimulation

Measure: affective state

Time: immediately after the end of 3-day cognitive training, after 1 month vs. baseline

Description: To assess predictors of positive reaction to brain stimulation, genotyping of several learning related polymorphisms will be performed (i.e., APOE, BDNF Val66Met, COMT Val158Met).

Measure: genotyping of learning related polymorphisms

Time: once

16 Modulation of Visual-Spatial Learning in Healthy Young Adults by Transcranial Direct Current Stimulation - Proof of Principle and Mechanisms

The aim of this study is to investigate whether a combination of intensive training of visual-spatial abilities (LOCATO task) with anodal transcranial direct current stimulation (tDCS) leads to an improvement of learning and memory in healthy young adults and to examine the underlying neuronal mechanism.

NCT02110407 Healthy Young Adults Device: tDCS Behavioral: training

To assess predictors of positive reaction to brain stimulation, genotyping of several learning related polymorphisms will be performed (i.e., APOE, BDNF Val66Met, COMT Val158Met).. Inclusion Criteria: - right handednesss - unobtrusive neuropsychological screening - age: 18-35 years Exclusion Criteria: - severe internal or psychiatric disease - epilepsy - other severe neurological disease, e.g. --- Val66Met --- --- Val158Met ---

Primary Outcomes

Description: Investigation whether the combination of intensive visual-spatial training (LOCATO task) and tDCS leads to improvement of visual-spatial learning and memory measured by the performance in LOCATO task after end of a 3 day period of training compared to sham stimulation.

Measure: performance in LOCATO task (visual-spatial learning and memory) after a combination of intensive visual-spatial training and tDCS

Time: immediately after end of a 3 day period of training in tDCS condition vs sham condition

Secondary Outcomes

Description: long term effetcs measured by performance in LOCATO task after end of training and after 1 month compared to control conditions

Measure: long term effects

Time: after 1 month vs baseline

Description: Connectivity (measured by resting-state fMRT and correlation analysis) at baseline compared to end of training

Measure: functional changes: Connectivity

Time: after end of 3-day cognitive training vs baseline

Description: cortical excitability measured by transcranial magnetic stimulation (TMS)

Measure: cortical excitability

Time: at baseline

Description: quality of life as measured by standardized questionaire at baseline compared to quality of life measured 1 month after intervention (training and stimulation vs. training and sham-stimualtion)

Measure: Quality of Life

Time: after 1 month vs baseline

Description: memory performance tested at baseline compared to memory performance after the end of a 3-day cognitive training period and after 1 month (posttraining) in training and stimulation vs. training and sham stimulation

Measure: memory

Time: immediately after end of 3-day of cognitive training, after 1 month vs. baseline

Description: To assess predictors of positive reaction to brain stimulation, genotyping of several learning related polymorphisms will be performed (i.e., APOE, BDNF Val66Met, COMT Val158Met).

Measure: genotyping of learning related polymorphisms

Time: once

17 Neuronal Correlates of Catecholamine Depletion in Patients With Bulimia Nervosa Off Medication and Healthy Controls

Bulimia nervosa is a severe psychiatric disorder characterized by recurrent binge eating episodes followed by inappropriate compensatory behavior to prevent weight gain such as self-induced vomiting. With this project, the investigators want to investigate the role of the neurotransmitter dopamine in bulimia nervosa. Dopamine is reported to have an important influence on the neural reward system and is involved in the processing of gains and losses. The reward system is functionally connected to the individual perception of rewards in the environment. A previous study revealed that under catecholamine depletion including dopamine depletion women suffering from bulimia nervosa in their past reported mild bulimic symptoms and their reward processing became dysfunctional: their ability to use rewarding stimuli for task solving was diminished. The aim of this study is to investigate the role of reduced dopamine availability in the development or maintaining of bulimia nervosa and in the dysfunctional processing of rewarding stimuli and negative visual information. Therefore, the investigators hypothesize that catecholamine depletion achieved by oral administration of alpha-methyl-paratyrosine (AMPT) will induce mild bulimic symptoms in females suffering from bulimia nervosa in their past. In addition, they will reveal dysfunctions in reward and emotional processing under catecholamine depletion. Using functional magnetic resonance imaging, the investigators propose that a reduced activation of the nucleus accumbens, a neural structure of the reward system, will be the neural correlate of this dysfunctional reward processing. Furthermore, the amygdala, a neural structure that is involved in emotional processing, will show a higher activation under catecholamine depletion. Genetic factors additionally have an influence on the dopaminergic system. Therefore, the investigators hypothesize that genetic factors, for example the COMT val-158-met polymorphism may have an effect on the behavioral and neural response to catecholamine depletion. In sum, this investigation may help to understand which changes in reward and emotional processing may lead to a reoccurrence of bulimic symptoms. In future, the findings of this study may help to develop individual pharmacological and psychotherapeutical interventions to enhance the outcome of treatment.

NCT02179814 Bulimia Nervosa Eating Disorders Dopamine Reward Catechol-O-methyltransferase Drug: AMPT/ Demser Drug: Diphenhydramine Drug: Placebo
MeSH: Bulimia Feeding and Eating Disorders Bulimia Nervosa
HPO: Bulimia

Therefore, the investigators hypothesize that genetic factors, for example the COMT val-158-met polymorphism may have an effect on the behavioral and neural response to catecholamine depletion. --- val-158-met ---

The COMT val-158-met polymorphism was found to play a critical role for the activity of the enzyme catechol-O-methyltransferase (COMT) that metabolizes catecholamines after they have been released into the synaptic cleft. --- val-158-met ---

In addition this study provided preliminary evidence that COMT val-158-met polymorphism explains some of the variance in the behavioral response to catecholamine depletion. --- val-158-met ---

An additional goal is to examine the effect of the COMT val-158-met polymorphism on neural activity. --- val-158-met ---

3. Participants with homozygous val-158 alleles of the COMT val-158-met polymorphism will show an increased activation in the ventral striatum during a reward task. --- val-158-met ---

4. Participants with at least one met-158 allele of the COMT val-158-met polymorphism will show higher amygdala activation during the encoding of negative emotional visual information. --- val-158-met ---

Primary Outcomes

Measure: Number of participants with side effects

Time: 1 year

Secondary Outcomes

Measure: Performance differences in behavioral tasks after catecholamine depletion

Time: 4 years

Measure: Differences in neural activation assessed during functional magnetic resonance imaging (fMRI) in the different conditions

Time: 4 years

Measure: Differences in neural activation assessed during functional magnetic resonance imaging (fMRI) and in performance in behavioral tasks in the different conditions between the different genotypes

Time: 4 years

18 The Use of an Open Label Placebo to Treat Cancer Related Fatigue in Cancer Survivors

The purpose of this randomized-controlled, crossover pilot trial is to evaluate the feasibility, acceptability and effects of a non-deceptive (open-label) administration of placebo pills for treating cancer related fatigue (CRF). If significant effects are found, the investigators will later determine if the presence of a COMT Val18Met genotype variant predicts placebo responses.

NCT02522988 Fatigue Behavioral: Open-label placebo intervention
MeSH: Fatigue
HPO: Fatigue

Test for the presence of a COMT Val158Met/Val or Val/Val variant gene. --- Val158Met ---

Investigators will collect and store saliva samples so, should significant OLPI effects be obtained, we can evaluate whether a potential biomarker (COMT Val158Met variant) associates with placebo responsiveness.. Inclusion Criteria: - Clinical diagnosis of Stage II - IV cancer; - Completed primary treatment 6months to 10 years; - Report ≥4 (moderate fatigue) on a 0-10 fatigue severity rating scale; - Agree not to change any medications or treatments during the study; - Willingness to make 4 clinical site visits over the course of the 49-day study. --- Val158Met ---

Primary Outcomes

Description: Unit of measure: number of enrollees / number of eligible participants as a measure of feasibility.

Measure: Enrollment Rate

Time: End of Study (7 weeks)

Description: Unit of measure: number of accrued participants / recruitment goal (80); odds ration of expected time-to-first participant/ actual time-to-first patient enrollment.

Measure: Accrual Rate as a Measure of Feasibility

Time: End of Study (7 weeks)

Description: Unit of measure: number of placebos taken / number prescribed (84)

Measure: Adherence Rate as a Measure of Feasibility

Time: End of Study (7 weeks)

Description: Unit of measure: number eligible for enrollment / number screened

Measure: Eligibility as a measure of Feasibility

Time: End of Study (7 weeks)

Description: Unit of measure: number retained in study / number enrolled (goal = 75% of enrolled

Measure: Retention as a measure of Acceptability

Time: End of Study (7 weeks)

Secondary Outcomes

Description: Units of measure: units on a scale using the Multidimensional Fatigue Symptom Inventory-Short Form (MFSI-SF) instrument. 30-questions measure the global, somatic, affective, behavioral and cognitive manifestations of fatigue. Scale for items = 0 (not at all) - 4 (extremely)

Measure: Measure of fatigue manifestation

Time: Baseline, 3 weeks, 4 weeks and 7 weeks

Description: Unit of measure: units on a scale using the Medical Outcomes Study 36-Item Short Form (MOS-36) instrument. The 36-item instrument measures the impact of fatigue on vitality, physical functioning, emotional functioning, social functioning and mental health. Scale for items = 1 (limited a lot) - 3 (Not limited at all)

Measure: Measurement of impact of fatigue on quality of life

Time: Baseline, 3 weeks, 4 weeks and 7 weeks

Description: Unit of measure: units on a scale using the FACT-Fatigue instrument; scale for impact is 0 = not at all; 10 = very much.

Measure: Measurement of the impact of fatigue on physical function

Time: Baseline, 3 weeks, 4 weeks and 7 weeks

Description: Units of measure: units on a scale using the Fatigue Symptom Inventory (FSI) instrument. Scale = 0 (no fatigue / no interference) to 10 (extreme fatigue / interference)

Measure: Measurement of fatigue severity

Time: Baseline, 3 weeks, 4 weeks and 7 weeks

Other Outcomes

Description: Investigators will collect and store saliva samples so, should significant OLPI effects be obtained, we can evaluate whether a potential biomarker (COMT Val158Met variant) associates with placebo responsiveness.

Measure: Test for the presence of a COMT Val158Met/Val or Val/Val variant gene

Time: Baseline

19 Prospective Study of Dysarthria, Swallowing Disorders and Respiratory in Parkinson's Disease

The investigators prospectively enrolled 64 early PD patients (less than 3 years after the first symptom) in order to prospectively assess the natural history of non-dopaminergic symptoms.

NCT02627664 Parkinson's Disease Other: observational study
MeSH: Deglutition Disorders Parkinson Disease Dysarthria
HPO: Dysarthria Dysphagia Oral-pharyngeal dysphagia Spastic dysarthria

To evaluate of cognitive and profile correlation to the polymorphisms of COMT (catechol-O-methyltransferase: Val158Met COMT) of MAPT H1 / H2 (microtubule associated tau protein) and ApoE (Apolipoprotein-E-ε2, 3, 4 ). --- Val158Met ---

Primary Outcomes

Description: BECD (French battery of clinical evaluation of the dysarthria) is a validated scale for qualitative assessment of dysarthria severity in neurological disorders, especially PD

Measure: dysarthria severity assessed by the BECD scale

Time: 2 years

Secondary Outcomes

Description: pulmonary function tests include spirometry with standard spirometer and maximal inspiratory and expiratory flow volume curves . At least 3 reproductible F-V curves are necessary. Values of FCV, FEV, peak expiratory flow, peak inspiratory flow, forced expiratory flow, SNIP were measured 12 hours after last levodopa intake (off drug)

Measure: respiratory insufficiency detection

Time: 2 years

Description: 150 mL glass of water test video fluoroscopy of swallow in off drug condition face and profile incidences: qualitative analysis of oral, pharyngeal, aspiration if necessary blindly assessed by 2 ENT experts in PD

Measure: swallowing function

Time: 2 years

Description: SWS test rhythmic tests for differens imposed frequencies (upper lower limb and facial) kinematic analysis of gait parameters by VICON (oxford metrics)

Measure: gait axial function (freezing)

Time: 2 years

Measure: Mattis scale

Time: 2 years

Measure: LARS scale

Time: 2 years

Measure: MADRS scale

Time: 2 years

Measure: PAS scale

Time: 2 years

Measure: MoCA

Time: 2 years

Description: To evaluate of cognitive and profile correlation to the polymorphisms of COMT (catechol-O-methyltransferase: Val158Met COMT) of MAPT H1 / H2 (microtubule associated tau protein) and ApoE (Apolipoprotein-E-ε2, 3, 4 )

Measure: Genetic Polymorphisme

Time: 2 years

20 Reliability of Pupil Response to Acute Pain

The purpose of this research study is to test whether researchers can reliably measure the response pupils have when an acute painful stimulus is experienced. Changes in the size of the pupil of the eye can be an indicator of brain activity in a region of the brain that is important for feeling pain.

NCT02628314 Pain Osteoarthritis
MeSH: Acute Pain

Key secondary hypotheses: Compared to individuals homozygous for val at the val158met site of the catecholamine-O-methyltransferase (COMT) gene, those homozygous for met will show smaller pupil responses to noxious stimuli and weaker CPM. --- val158met ---

Primary Outcomes

Description: pupil diameter in response to 5 second presentation of noxious heat stimuli

Measure: Percentage of change in pupil diameter

Time: 8 weeks

Description: Verbal pain scores will be obtained during stimulus presentation

Measure: Change from Baseline Verbal Pain Scores

Time: 8 weeks

21 Improving Learning and School Functioning in Latino Children With Cancer

This randomized clinical trial studies how well a high-intensity intervention parenting program works in improving learning and school functioning in Latino children with acute leukemia or lymphoblastic lymphoma. A high-intensity intervention program may help doctors to see whether training parents or caregivers in specific parenting skills and "pro-learning" behaviors will result in better learning and school outcomes for Latino children with acute leukemia or lymphoblastic lymphoma. It is not yet known if a high-intensity intervention program is more beneficial than a standard of care lower intensity parenting intervention.

NCT03178617 Caregiver Childhood Acute Lymphoblastic Leukemia Childhood Acute Myeloid Leukemia Childhood Lymphoblastic Lymphoma Acute Leukemia Parent Other: Educational Intervention Other: Educational Intervention Other: Quality-of-Life Assessment Other: Questionnaire Administration
MeSH: Lymphoma Leukemia Precursor Cell Lymphoblastic Leukemia-Lymphoma Lymphoma, Non-Hodgkin
HPO: Leukemia Lymphoma Non-Hodgkin lymphoma

SECONDARY OBJECTIVES: I. Explore the associations between neurocognitive performance and polymorphisms in candidate genes previously reported to explain cognitive variability in childhood cancer survivors (e.g., the catechol-O-methyltransferase Val158Met polymorphism and the nitric oxide synthase [NOS3] 894T allele) or involved in the stress response (e.g., the Serotonin transporter rs25531 and the Glucocorticoid receptor rs6190). --- Val158Met ---

Primary Outcomes

Description: Measured by the parent-reported Pediatric Quality of Life Inventory school domain.

Measure: Change in child's health-related quality of life school functioning

Time: Baseline up to 12 months

Description: Measured by the Efficacy scale from the Parent Knowledge, Beliefs and Behaviors Questionnaire-3rd Revision (PBQ-R3).

Measure: Change in parental efficacy

Time: Baseline up to 12 months

Measure: Children's neurocognitive functioning as measured by performance scores on Conner's Computerized Test

Time: Up to 12 months

Secondary Outcomes

Description: Measured by WIAT: reading and math scores and classroom grades from school report cards.

Measure: Objective academic performance (Child)

Time: Up to 12 months

Description: Measured by the Conners Parent Report Attention subscale.

Measure: Attention performance (Child)

Time: Up to 12 months

Description: Measured by PBQ-R3 Behaviors Scale.

Measure: Frequency of pro-learning behaviors (Parent)

Time: Up to 12 months

Description: Measured by the Parents' weekly time spent with child in pro-learning behaviors and activities.

Measure: Frequency of pro-learning behaviors (Parent)

Time: Up to 12 months

Description: Measured by PBQ-R3 Knowledge scale.

Measure: Knowledge of pro-learning parenting (Parent)

Time: Up to 12 months

Measure: Children's scores on other neurocognitive tests as assessed by learning, memory, and processing speed

Time: Up to 12 months

Measure: Parental reports of their children's HRQOL as measured by the PedsQL parent proxy questionnaire

Time: Up to 12 months

22 Efficacy of Transcranial Direct Current Stimulation for Severe Refractory Primary Dysmenorrhea: Translational and Genetic Neuroimaging Studies

Primary Dysmenorrhea (PDM), defined as menstrual pain without discernable organic causes, is inexorably common in adolescent women, about 40-90% of women may suffer from it, and 20% of them can be severe in the context of being refractory to medication, daily function impairment, and having pain of severe degree. Novel therapeutic method is in need for pain alleviation for this particular phenotype. We have previously reported that PDM females may engage motor-cortex based descending pain modulation system in our resting-state functional Magnetic Resonance Imaging (rs-fMRI) and thermal pain-activation fMRI studies. Based on the reported analgesic efficacy of transcranial Direct Current Stimulation (tDCS) on the motor cortex for various experimental painful conditions and clinical pain disorders, we reason that tDCS can be effective for the severe and medication-refractory PDM patients. This study aim to investigate the analgesic efficacy of tDCS in severe PDMs and to elucidate the dynamic brain neuroplasticity in the context of functional connectivity (FC) of pain matrix after tDCS intervention. We will recruit 30 severe PDMs and randomly allocate them to either real or sham group in a triple-blind manner. rs-fMRI for functional connectivity analysis will be performed before and after the tDCS intervention. The imaging data will be correlated with behavioral and psychological measurements. This is the first study in the literature investigating the tDCS efficacy for severe PDM. The result can promise a new possibility for clinical application.

NCT03594916 Primary Dysmenorrhea Device: Active tDCS Device: Sham tDCS
MeSH: Dysmenorrhea
HPO: Dysmenorrhea

To genotype the single nucleotide polymorphism genotyping (i.e., BDNF Val66Met polymorphism (rs6265), COMT Val158Met polymorphism (rs4680), OPRM1 (rs1799971), 5HTR2A (rs6313), SLC6A4 (rs25531)) from blood specimen. --- Val66Met --- --- Val158Met ---

Primary Outcomes

Description: pain scale; from 0 to 10; score 0: no pain, score 10: unbearable pain

Measure: Visual Analog Scale (VAS)

Time: change from baseline (1st menstrual phase, before tDCS) at one month (2nd menstrual phase, with tDCS), change from baseline (1st menstrual phase, before tDCS) at two months (3rd menstrual phase)

Description: Resting-state functional magnetic resonance imaging (rs-fMRI) is a well established method of functional magnetic resonance imaging (fMRI) that is used to evaluate regional interactions in the brain that occur in a resting (task-negative) state, when a subject is not performing an explicit task. Functional connectivity is the connectivity between brain regions that share functional properties, it can be defined as the correlation between spatially remote neurophysiological events, expressed as the neural networks of brain.

Measure: Functional connectivity of rs-fMRI Imaging

Time: change from baseline (before tDCS, before 2nd menstrual phase) at one week (after tDCS completion), change from baseline (before tDCS, before 2nd menstrual phase) at four weeks (before the 3rd menstrual phase)

Secondary Outcomes

Description: To assess the threshold of thermal sensation (cold, cold-pain, heat, heat-pain; from 0 to 50 centigrade temperature), according to the established protocol of an ascending limit approach for heat pain and a descending limit approach for cold pain.

Measure: Quantitative sensory testing (QST)

Time: change from baseline (before tDCS) at one week (after tDCS completion), change from baseline (before tDCS) at four weeks (before the 3rd menstrual phase), change from baseline (before tDCS) at five weeks (after the 3rd menstrual phase)

Description: To assess anxious symptoms; from 20 to 80; score 20: not anxious, score 80: extremely anxious

Measure: Spielberger State-Trait Anxiety Inventory (STAI)

Time: change from baseline (before tDCS) at one week (after tDCS completion), change from baseline (before tDCS) at four weeks (before the 3rd menstrual phase), change from baseline (before tDCS) at five weeks (after the 3rd menstrual phase)

Description: To assess anxious symptoms; from 0 to 63; score 0: not anxious, score 63: extremely anxious

Measure: Beck Anxiety Inventory (BAI)

Time: change from baseline (before tDCS) at one week (after tDCS completion), change from baseline (before tDCS) at four weeks (before the 3rd menstrual phase), change from baseline (before tDCS) at five weeks (after the 3rd menstrual phase)

Description: To assess depressive symptoms; from 0 to 63; score 0: not depressed, score 63: extremely depressed

Measure: Beck Depression Inventory (BDI)

Time: change from baseline (before tDCS) at one week (after tDCS completion), change from baseline (before tDCS) at four weeks (before the 3rd menstrual phase), change from baseline (before tDCS) at five weeks (after the 3rd menstrual phase)

Description: To assess pain-maladaptive psychological status; from 0 to 52; score 0: not pain Catastrophizing , score 52: extremely pain Catastrophizing

Measure: Pain Catastrophizing Scale (PCS)

Time: change from baseline (before tDCS) at one week (after tDCS completion), change from baseline (before tDCS) at four weeks (before the 3rd menstrual phase), change from baseline (before tDCS) at five weeks (after the 3rd menstrual phase)

Description: To assess pain status; from 0 to 78; score 0: not painful, score 78: extremely painful

Measure: Long-form McGill Pain Questionnaire (MPQ)

Time: change from baseline (before tDCS) at one week (after tDCS completion), change from baseline (before tDCS) at four weeks (before the 3rd menstrual phase), change from baseline (before tDCS) at five weeks (after the 3rd menstrual phase)

Description: To assess quality of life; he SF-36 consists of eight scaled scores, which are the weighted sums of the questions in their section. Each scale is directly transformed into a 0-100 scale on the assumption that each question carries equal weight. From 0 to 100; score 0: equivalent to maximum disability, score 100: no disability.

Measure: Short-Form Health Survey (SF-36)

Time: change from baseline (before tDCS) at one week (after tDCS completion), change from baseline (before tDCS) at five weeks (after the 3rd menstrual phase)

Description: To assess testosterone, progesterone, estrogen

Measure: Blood Hormones Measurement

Time: change from baseline (before tDCS) at one week (after tDCS completion), change from baseline (before tDCS) at four weeks (before the 3rd menstrual phase)

Description: To genotype the single nucleotide polymorphism genotyping (i.e., BDNF Val66Met polymorphism (rs6265), COMT Val158Met polymorphism (rs4680), OPRM1 (rs1799971), 5HTR2A (rs6313), SLC6A4 (rs25531)) from blood specimen

Measure: Genotyping

Time: baseline

Description: To assure blinding efficacy; Patients do self-assessment about whether they receive real tDCS or sham tDCS. Assessment questionnaire:1 or 0. 1: real tDCS; 0: sham tDCS.

Measure: Efficacy of tDCS blinding

Time: At 1 months after tDCS intervention

23 Neuromodulation Effect of Transcranial Direct Current Stimulation in Severe Refractory Primary Dysmenorrhea: BDNF and MEG Study

Primary Dysmenorrhea (PDM), defined as menstrual pain without discernable organic causes, is inexorably common in adolescent women, about 40-90% of women may suffer from it, and 20% of them can be severe in the context of being refractory to medication, daily function impairment, and having pain of severe degree. Novel therapeutic method is in need for pain alleviation for this particular phenotype. It has been reported that PDM females may engage motor-cortex based descending pain modulation system in our resting-state functional Magnetic Resonance Imaging (rs-fMRI) and thermal pain-activation fMRI studies. Based on the reported analgesic efficacy of transcranial Direct Current Stimulation (tDCS) on the motor cortex for various experimental painful conditions and clinical pain disorders, it is plausible that tDCS can be effective for the severe and medication-refractory PDM patients. This study aim to investigate the analgesic efficacy of tDCS in severe PDMs and to elucidate the dynamic brain neuroplasticity in the context of experimental pain after tDCS intervention. Thirty severe PDMs will be recruited and randomly allocated to either real or sham group in a triple-blind manner. Experimental pain electrical stimulation will be performed before and after the tDCS intervention. The experimental pain-evoked magnetoencephamographic (MEG) data will be correlated with behavioral and psychological measurements. This is the first study in the literature investigating the tDCS efficacy for acute pain in severe PDM. The result can promise a new possibility for clinical application.

NCT03608215 Primary Dysmenorrhea Device: Active tDCS Device: Sham tDCS
MeSH: Dysmenorrhea
HPO: Dysmenorrhea

To genotype the single nucleotide polymorphism genotyping (i.e., BDNF Val66Met polymorphism (rs6265), COMT Val158Met polymorphism (rs4680), OPRM1 (rs1799971), 5HTR2A (rs6313), SLC6A4 (rs25531)) from blood specimen. --- Val66Met --- --- Val158Met ---

Primary Outcomes

Description: pain scale; from 0 to 10; score 0: no pain, score 10: unbearable pain

Measure: Visual Analog Scale (VAS)

Time: change from baseline (1st menstrual phase, before tDCS) at one month (2nd menstrual phase, with tDCS), change from baseline (1st menstrual phase, before tDCS) at two months (3rd menstrual phase)

Description: Somatosensory evoked magnetic fields (SEFs) is a well established magnetoencephalographic (MEG) cortical response evoked by electric stimulation. SEFs to experimental pain stimulation using electrical stimulator applied on the skin over the trajectory of median nerve will be used to evaluate pain-evoked cortical response.

Measure: Somatosensory evoked magnetic fields to experimental pain

Time: change from baseline (before tDCS, before 2nd menstrual phase) at one week (after tDCS completion), change from baseline (before tDCS, before 2nd menstrual phase) at four weeks (before the 3rd menstrual phase)

Secondary Outcomes

Description: To assess the threshold of thermal sensation (cold, cold-pain, heat, heat-pain; from 0 to 50 centigrade temperature), according to the established protocol of an ascending limit approach for heat pain and a descending limit approach for cold pain.

Measure: Quantitative sensory testing (QST)

Time: change from baseline (before tDCS) at one week (after tDCS completion), change from baseline (before tDCS) at four weeks (before the 3rd menstrual phase), change from baseline (before tDCS) at five weeks (after the 3rd menstrual phase)

Description: To assess anxious symptoms; from 20 to 80; score 20: not anxious, score 80: extremely anxious

Measure: Spielberger State-Trait Anxiety Inventory (STAI)

Time: change from baseline (before tDCS) at one week (after tDCS completion), change from baseline (before tDCS) at four weeks (before the 3rd menstrual phase), change from baseline (before tDCS) at five weeks (after the 3rd menstrual phase)

Description: To assess anxious symptoms; from 0 to 63; score 0: not anxious, score 63: extremely anxious

Measure: Beck Anxiety Inventory (BAI)

Time: change from baseline (before tDCS) at one week (after tDCS completion), change from baseline (before tDCS) at four weeks (before the 3rd menstrual phase), change from baseline (before tDCS) at five weeks (after the 3rd menstrual phase)

Description: To assess depressive symptoms; from 0 to 63; score 0: not depressed, score 63: extremely depressed

Measure: Beck Depression Inventory (BDI)

Time: change from baseline (before tDCS) at one week (after tDCS completion), change from baseline (before tDCS) at four weeks (before the 3rd menstrual phase), change from baseline (before tDCS) at five weeks (after the 3rd menstrual phase)

Description: To assess pain-maladaptive psychological status; from 0 to 52; score 0: not pain Catastrophizing , score 52: extremely pain Catastrophizing

Measure: Pain Catastrophizing Scale (PCS)

Time: change from baseline (before tDCS) at one week (after tDCS completion), change from baseline (before tDCS) at four weeks (before the 3rd menstrual phase), change from baseline (before tDCS) at five weeks (after the 3rd menstrual phase)

Description: To assess pain status; from 0 to 78; score 0: not painful, score 78: extremely painful

Measure: Long-form McGill Pain Questionnaire (MPQ)

Time: change from baseline (before tDCS) at one week (after tDCS completion), change from baseline (before tDCS) at four weeks (before the 3rd menstrual phase), change from baseline (before tDCS) at five weeks (after the 3rd menstrual phase)

Description: To assess quality of life; he SF-36 consists of eight scaled scores, which are the weighted sums of the questions in their section. Each scale is directly transformed into a 0-100 scale on the assumption that each question carries equal weight. From 0 to 100; score 0: equivalent to maximum disability, score 100: no disability.

Measure: Short-Form Health Survey (SF-36)

Time: change from baseline (before tDCS) at one week (after tDCS completion), change from baseline (before tDCS) at five weeks (after the 3rd menstrual phase)

Description: To assess testosterone, progesterone, estrogen

Measure: Blood Hormones Measurement

Time: change from baseline (before tDCS) at one week (after tDCS completion), change from baseline (before tDCS) at four weeks (before the 3rd menstrual phase)

Description: To genotype the single nucleotide polymorphism genotyping (i.e., BDNF Val66Met polymorphism (rs6265), COMT Val158Met polymorphism (rs4680), OPRM1 (rs1799971), 5HTR2A (rs6313), SLC6A4 (rs25531)) from blood specimen

Measure: Genotyping

Time: baseline

Description: To assure blinding efficacy; Patients do self-assessment about whether they receive real tDCS or sham tDCS. Assessment questionnaire:1 or 0. 1: real tDCS; 0: sham tDCS.

Measure: Efficacy of tDCS blinding

Time: At 1 months after tDCS intervention

24 The Role of Sex Steroids and Serotonin Brain Dynamics in Perinatal Mental Health

Hormonal transitions such as across pregnancy and postpartum may trigger depressive episodes in some women. It is not known why, but estrogen sensitivity may play a critical role. A preclinical human risk model showed that depressive symptoms induced by pharmacological sex-hormone manipulation is linked to increases in serotonin transporter (SERT) brain binding, which lowers serotonergic brain tone. It is currently unknown if these findings translates to women across pre- to postpartum transitions. This longitudinal project studies a group of women who will deliver by planned caesarian, thus permitting the collection of cerebrospinal fluid (csf) containing central markers of serotonergic signaling, at the latest point in pregnancy. The women are followed across late pregnancy, delivery and 6 months postpartum to illuminate relations between sex-hormones, stress-regulation, estradiol sensitivity, csf markers of neurotransmission, serotonin transporter genotype variance, and potential development of subclinical or manifest depressive symptoms. Further, markers of relevance for the infant brain development and stress-regulation will be obtained from placenta tissue and umbilical cord blood. A subgroup of 70 women will participate in a brain imaging program early postpartum (week 3-5), which includes an evaluation of brain activity and structure and in vivo molecular brain imaging serotonergic markers. Thus, serotonergic markers in csf can be combined with postpartum molecular brain imaging of key features of serotonin signaling. Women in the imaging program are selected based on variation in their level of mental distress immediately postpartum (day 2-5). The study's main hypothesis is that women with high-expressing SERT genotypes are more sensitive to peripartum hormonal transition in terms of changes in serotonergic tone and emergence of depressive symptoms and that such an association will be stronger in the presence of candidate gene transcript biomarkers of oestrogen sensitivity. A further hypothesis is that in vivo molecular brain imaging and csf based serotonergic markers will be associated with depressive symptoms both early and later postpartum. Ideally, this project will provide a rationale for future targeted prevention and/or treatment of perinatal depression in women at high risk, which holds grand potential to protect not only mother but also infant brain health long-term.

NCT03795688 Major Depressive Disorder Perinatal Depression Other: Pregnancy
MeSH: Depressive Disorder Depressive Disorder, Major
HPO: Depressivity

val158met (rs4680) status, binary variable, i.e. "val/val, val/met" vs "met/met" variants. --- val158met ---

Primary Outcomes

Description: Edinburgh Postnatal Depression Scale. Score range: 0-30. Higher scores indicate more symptoms of postpartum depression. Total group

Measure: Depressive symptoms

Time: Week 3-6 postpartum

Description: Score on the Hamilton 17-item depression scale. Score range: 0-52. Higher scores indicate more depressive symptoms. Assessed in imaging group

Measure: Depressive symptoms

Time: Week 3-6 postpartum

Description: 116 a priori defined gene transcripts, which where differentially expressed in third trimester of women who later developed perinatal depression with postpartum onset relative to pregnant women who did not and to other depressed (reference Mehta et al, 2014, Psychological Medicine) and confirmed to be coupled to estrogen fluctuations (Mehtaet al. 2018 British Journal of Psychiatry) will be evaluated in the total group. Also DNA methylation of the genes of these transcripts will be determined and analysed in terms of their predictive value (above chance) for perinatal depression.

Measure: Gene transcript and DNA methylation markers of estrogen sensitivity

Time: Prior to caesarean section

Description: Latent variable construct of brain 5-HT4R level based on quantification of 5-HT4R binding from 11C-SB207145 positron emission tomography in primary volumes of interest; neocortex, nucleus caudatus, putamen and hippocampus. Assessed in imaging group.

Measure: Cerebral serotonin 4 receptor binding postpartum

Time: Week 3-6 postpartum

Description: Assessed in total group

Measure: CSF levels of GABA

Time: On day of caesarean section

Description: Assessed in total group

Measure: CSF levels of serotonin metabolite (5-HIAA)

Time: On day of caesarean section

Description: Cortisol awakening response, area under the curve with respect to baseline from 0 to 60 minutes from awakening.

Measure: Cortisol awakening response

Time: Week 3-6 postpartum

Description: Provides an estimate of cortisol exposure up to 6 months prior to delivery, total group

Measure: Hair cortisol level mothers

Time: On day of caesarean section.

Description: Provides an estimate of fetal cortisol exposure, infants from total group

Measure: Hair cortisol level newborns

Time: Day 0-5 postpartum.

Description: Hippocampal brain volume (including hippocampus) from structural MRI, imaging group.

Measure: Hippocampal volumes

Time: Week 3-6 postpartum.

Description: fMRI (BOLD response) based assessment of brain activity in response to reward, relative to non-reward, stimuli. Assessed in imaging cohort

Measure: functional MRI response to reward

Time: Week 3-6 postpartum.

Description: rsfMRI based spontaneous co-fluctuations in low frequency BOLD signal, (functional connectivity). Assessed with rsfMRI scan in the resting state, i.e. non-goal oriented spontaneous thought and awake. Assessed in imaging group.

Measure: Resting state functional connectivity MRI

Time: Week 3-6 postpartum

Description: Change in epigenetic SERT status from late pregnancy to postpartum week 3-6.

Measure: Change in epigenetic SERT status

Time: From just before delivery to 3-6 weeks postpartum

Description: Composite measure of hsCRP, TNF-α, IL-6, IL-18 and IL-10 levels, total group

Measure: Concentration of inflammatory markers, i.e hsCRP and immunoactive cytokines, in peripheral blood

Time: At week 3-6

Description: fMRI (BOLD response) based assessment of brain activity to emotionally salient, relative to neutral, stimuli. Assessed in imaging cohort.

Measure: functional MRI response to emotional faces

Time: Week 3-6 postpartum.

Secondary Outcomes

Description: Score on the Hamilton 17-item depression scale. Score range: 0-52. Higher scores indicate more depressive symptoms. Assessed in imaging group

Measure: Depressive symptoms

Time: Day 3-5 postpartum

Description: Score on the Hamilton 17-item depression scale. Score range: 0-52. Higher scores indicate more depressive symptoms. Assessed in imaging group

Measure: Depressive symptoms

Time: Week 12 postpartum

Description: Edinburgh Postnatal Depression Scale. Score range: 0-30. Higher scores indicate more symptoms of postpartum depression. Assessed in total group

Measure: Depressive symptoms

Time: Day 3-5 postpartum

Description: Edinburgh Postnatal Depression Scale. Score range: 0-30. Higher scores indicate more symptoms of postpartum depression. Assessed in all

Measure: Depressive symptoms

Time: 6 months postpartum

Description: Assessed in total group

Measure: CSF levels of serotonin

Time: On day of caesarean section

Description: Assessed in total group

Measure: CSF levels of dopamine metabolites

Time: On day of caesarean section

Description: Assessed in total group

Measure: CSF levels of noradrenaline metabolites

Time: On day of caesarean section

Description: Composite measure of IFN-c, IFN-alfa TNF-alfa og IL-6, in total group

Measure: CSF levels of inflammatory markers

Time: On day of caesarean section

Description: Estradiol level in peripheral blood, total group

Measure: Estradiol level

Time: Prior to caesarean section.

Description: Estradiol level peripheral blood, total group

Measure: Estradiol level

Time: At week 3-6 postpartum.

Description: Estradiol change pre- to postpartum, peripheral blood total group

Measure: Change in estradiol level

Time: From baseline (caesarean section to week 3-6 postpartum)

Description: Progesterone level in peripheral blood

Measure: Progesterone level

Time: Prior to caesarean section.

Description: Progesterone level in peripheral blood

Measure: Progesterone level

Time: At week 3-6 postpartum.

Description: Progesterone change pre- to postpartum, peripheral blood total group

Measure: Change in progesterone level

Time: From baseline (caesarean section to week 3-6 postpartum)

Description: Allopregnanolone level in peripheral blood

Measure: Allopregnanolone level

Time: Prior to caesarean section.

Description: Allopregnanolone level in peripheral blood

Measure: Allopregnanolone level

Time: At week 3-6 postpartum.

Description: Change in allopregnanolone level in peripheral blood

Measure: Change in allopregnanolone level

Time: From baseline (caesarean section to week 3-6 postpartum)

Description: Cortisol change pre- to postpartum, peripheral blood total group

Measure: Change in cortisol level

Time: From baseline (caesarean section to week 3-6 postpartum)

Description: Cortisol awakening response, area under the curve with respect to baseline from 0 to 60 minutes from awakening.

Measure: Cortisol awakening response

Time: Week 12 postpartum

Description: Cortisol awakening response, area under the curve with respect to baseline from 0 to 60 minutes from awakening.

Measure: Cortisol awakening response

Time: Prior to caesarean section

Description: Change in cortisol awakening response, from caesarean section to 3-6 weeks postpartum.

Measure: Change in cortisol awakening response

Time: ´From baseline (caesarean section to week 3-6 postpartum)

Description: Methylation status for the SERT gene, total group

Measure: DNA methylation of the SERT gene

Time: Prior to caesarean section

Description: DNA Methylation status for the SERT gene, total group

Measure: DNA methylation of the SERT gene

Time: Week 3-6 postpartum

Description: Methylation status for the FK506-binding protein 51 (FKBP5) gene, total group

Measure: DNA methylation of the FK506-binding protein 51 (FKBP5) gene

Time: Prior to caesarean section.

Description: Methylation status for the FK506-binding protein 51 (FKBP5) gene, total group

Measure: DNA methylation of the FK506-binding protein 51 (FKBP5) gene

Time: Week 3-6 postpartum

Description: Change in methylation status for the FK506-binding protein 51 (FKBP5) gene from late pregnancy to postpartum week 3-6.

Measure: Change in DNA methylation of the FK506-binding protein 51 (FKBP5) gene

Time: From baseline (caesarean section to week 3-6 postpartum)

Description: Methylation status for the glucocorticoid receptor gene, total group

Measure: DNA methylation of the glucocorticoid receptor gene

Time: Prior to caesarean section.

Description: Methylation status for the glucocorticoid receptor gene, total group

Measure: DNA methylation of the glucocorticoid receptor gene

Time: Week 3-6 postpartum

Description: Change in methylation status for the glucocorticoid receptor gene from late pregnancy to postpartum week 3-6.

Measure: Change in DNA methylation of the glucocorticoid receptor gene

Time: From baseline (caesarean section to week 3-6 postpartum)

Description: Methylation status for the COMT gene, total group

Measure: DNA methylation of the COMT gene

Time: Prior to caesarean section.

Description: Methylation status for the COMT gene, total group

Measure: DNA methylation of the COMT gene

Time: Week 3-6 postpartum

Description: Change in methylation status for the COMT gene from just before delivery to 3-6 weeks postpartum

Measure: Change in DNA methylation of the COMT gene

Time: From baseline (caesarean section to week 3-6 postpartum)

Description: Methylation status for the MAO-A gene, total group

Measure: DNA methylation of the MAO-A gene

Time: Prior to caesarean section.

Description: Change in methylation status for the MAO-A gene, total group

Measure: Change in DNA methylation of the MAO-A gene

Time: From baseline (caesarean section to week 3-6 postpartum)

Description: Methylation status for the MAO-A gene, total group

Measure: DNA methylation of the MAO-A gene

Time: Week 3-6 postpartum

Description: Methylation status for the oxytocin receptor gene, total group

Measure: DNA methylation of the oxytocin receptor gene

Time: Prior to caesarean section.

Description: Methylation status for the oxytocin receptor gene, total group

Measure: DNA methylation of the oxytocin receptor gene

Time: Week 3-6 postpartum

Description: Change in methylation status for the oxytocin receptor gene, total group

Measure: Change in DNA methylation of the oxytocin receptor gene

Time: From baseline (caesarean section to week 3-6 postpartum)

Description: Methylation status for the oxytocin gene, total group

Measure: DNA methylation of the oxytocin gene

Time: Prior to caesarean section.

Description: Methylation status for the oxytocin gene, total group

Measure: DNA methylation of the oxytocin gene

Time: Week 3-6 postpartum

Description: Change methylation status for the oxytocin gene, total group

Measure: Change in DNA methylation of the oxytocin gene

Time: From baseline (caesarean section to week 3-6 postpartum)

Description: Composite measure of hsCRP, TNF-α, IL-6, IL-18 and IL-10 levels, total group

Measure: Systemic inflammation peripheral blood hsCRP and immunoactive cytokines

Time: Prior to caesarean section.

Description: Change in composite measure of hsCRP, TNF-α, IL-6, IL-18 and IL-10 levels, total group

Measure: Change in systemic inflammation peripheral blood hsCRP and immunoactive cytokines

Time: From baseline (caesarean section to week 3-6 postpartum

Description: Family History Assessment Module (OS-FHAM). Number of first degree relatives with a history of depressive episodes or bipolar disorder. Total group.

Measure: Self reported family history of mood disorders

Time: Day 3-5 postpartum or before

Description: Barratt Impulsiveness Scale (BIS-11), self-reported. Range: 30-120. Total group.

Measure: Self reported impulsiveness score

Time: Day 3-5 postpartum or before

Description: NEO-PI-R - Revised NEO Personality Inventory, self-reported. Participants may score 20-80 for each of the personality traits: openness, conscientiousness, extraversion, agreeableness, and neuroticism. The higher the score, the more prominent is the personality trait. Total group.

Measure: Self reported Neuroticism score from NEO personality questionnaire

Time: Day 3-5 postpartum or before

Description: Parental bonding instrument (PBI), both parents, self-reported. Total group.

Measure: Self reported parental bonding quality

Time: Day 3-5 postpartum or before

Description: Perceived Stress Scale (PSS), range 0-40, a score of 0 indicates no perceived stress. Total group.

Measure: Self-reported perceived stress

Time: Day 3-5 postpartum

Description: Perceived Stress Scale (PSS), range 0-40, a score of 0 indicates no perceived stress. Total group.

Measure: Self-reported perceived stress

Time: Week 3-6 postpartum

Description: Change in Perceived Stress Scale (PSS), range 0-40, a score of 0 indicates no perceived stress. Total group.

Measure: Change in self-reported perceived stress

Time: Change from day 3-5 to week 3-6 postpartum

Description: Snaith-Hamilton Pleasure Scale (SHAPS), range 0-14, a score of 0 indicates no self-reported anhedonia. Total group.

Measure: Self-reported anhedonia

Time: Day 3-5 postpartum

Description: Snaith-Hamilton Pleasure Scale (SHAPS), range 0-14, a score of 0 indicates no self-reported anhedonia. Total group.

Measure: Self-reported anhedonia

Time: Week 3-6 postpartum

Description: Change in Snaith-Hamilton Pleasure Scale (SHAPS) score, range 0-14, a score of 0 indicates no self-reported anhedonia. Total group.

Measure: Change in self-reported anhedonia

Time: Change from day 3-5 to week 3-6 postpartum

Description: Rumination Response Scale (RRS), range 22-88, a score of 22 indicates no ruminative symptoms. Total group.

Measure: Self-reported rumination

Time: Day 3-5 postpartum

Description: Rumination Response Scale (RRS), range 22-88, a score of 22 indicates no ruminative symptoms. Total group.

Measure: Self-reported rumination

Time: Week 3-6 postpartum

Description: Change in Rumination Response Scale (RRS) score, range 22-88, a score of 22 indicates no ruminative symptoms. Total group.

Measure: Change in elf-reported rumination

Time: Change from day 3-5 to week 3-6 postpartum

Description: Profile of Mood States (POMS), range 0-260, a score of 0 indicates no mood disturbance. Total group.

Measure: Self-reported mood

Time: Day 3-5 postpartum

Description: Profile of Mood States (POMS), range 0-260, a score of 0 indicates no mood disturbance. Total group.

Measure: Self-reported mood

Time: Week 3-6 postpartum

Description: Change in Profile of Mood States (POMS) score, range 0-260, a score of 0 indicates no mood disturbance. Total group.

Measure: Change in self-reported mood

Time: Change from day 3-5 to week 3-6 postpartum

Description: Pittsburgh Sleep Quality Index (PSQI), range 0-21, a score of 0 indicates a healthy sleep quality. Total group.

Measure: Self-reported sleep quality

Time: Day 3-5 postpartum

Description: Pittsburgh Sleep Quality Index (PSQI), range 0-21, a score of 0 indicates a healthy sleep quality. Total group.

Measure: Self-reported sleep quality

Time: Week 3-6 postpartum

Description: Change in Pittsburgh Sleep Quality Index (PSQI), range 0-21, a score of 0 indicates a healthy sleep quality. Total group.

Measure: Change in self-reported sleep quality

Time: Change from day 3-5 to week 3-6 postpartum

Description: Brief symptom Inventory-53 item (BSI-53), range 0-212, increasing score means worsening of symptoms.Total group.

Measure: Self-reported psychiatric symptoms

Time: Day 3-5 postpartum

Description: Brief symptom Inventory-53 item (BSI-53), range 0-212, increasing score means worsening of symptoms.Total group.

Measure: Self-reported psychiatric symptoms

Time: Week 3-6 postpartum

Description: Change in Brief symptom Inventory-53 item (BSI-53) score, range 0-212, increasing score means worsening of symptoms.Total group.

Measure: Change in self-reported psychiatric symptoms

Time: Change from day 3-5 to week 3-6 postpartum

Description: WHO-5 well-being index, range 0-100, low score means less well-being. Total group.

Measure: Self-reported well-being

Time: Day 3-5 postpartum

Description: WHO-5 well-being index, range 0-100, low score means less well-being. Total group.

Measure: Self-reported well-being

Time: Week 3-6 postpartum

Description: Change in WHO-5 well-being index, range 0-100, low score means less well-being. Total group.

Measure: Change in self-reported well-being

Time: Change from day 3-5 to week 3-6 postpartum

Description: State Trait Anxiety Inventory (STAI-AD-D), state and trait subscales each have a range of 20-80, 20 means no anxiety. Total group.

Measure: Self-reported anxiety

Time: Day 3-5 postpartum

Description: State Trait Anxiety Inventory (STAI-AD-D), state subscale range 20-80, 20 means no anxiety. Total group.

Measure: Self-reported anxiety

Time: Week 3-6 postpartum

Description: Change in State Trait Anxiety Inventory (STAI-AD-D) score, state subscale range 20-80, 20 means no anxiety. Total group.

Measure: Change in self-reported anxiety

Time: Change from day 3-5 to week 3-6 postpartum

Description: Obsessive-Compulsive Inventory (OCI) score, self-reported, range 0-72, higher scores indicate more symptoms. Total group.

Measure: Self-reported obsessive and compulsive symptoms

Time: Day 3-5

Description: Obsessive-Compulsive Inventory (OCI) score, self-reported, range 0-72, higher scores indicate more symptoms. Total group.

Measure: Self-reported obsessive and compulsive symptoms

Time: Week 3-6 postpartum

Description: Change in Obsessive-Compulsive Inventory (OCI) score, self-reported, range 0-72, higher scores indicate more symptoms. Total group.

Measure: Change in self-reported obsessive and compulsive symptoms

Time: Change from day 3-5 to week 3-6 postpartum

Description: Performance on Simple Reaction Time, in imaging cohort.

Measure: Performance on Simple Reaction Time

Time: Week 3-6 postpartum

Description: Gray matter brain volume prefrontal cortex and anterior cingulate cortex

Measure: Gray matter brain volume prefrontal cortex and anterior cingulate cortex

Time: At week 3-6 postpartum

Description: Composite measure of serotonin, tryptophan og tryptofan hydroxylase levels relative to 5-HIAA, in placenta sample. Infants from total group

Measure: Serotonergic turnover in placenta

Time: At delivery.

Description: 11-beta-hydroxysteroid dehydrogenase type 2 activity in placenta. Infants from total group

Measure: 11-beta-hydroxysteroid dehydrogenase type 2 activity in placenta

Time: At delivery

Description: Composite measure of methylation status for the FKBP5, glucocorticoid receptor, 11-beta hydroxysteroid dehydrogenase type 2 genes. Infants from total group

Measure: Methylation status of genes relevant for stress-hormone regulation in placenta

Time: At delivery

Description: Composite measure of the methylation status for monoamine oxidase, serotonin receptor and serotonin transporter genes. Infants from total group

Measure: Methylation status of genes related to serotonergic signaling in placenta

Time: At delivery

Description: Composite measure of methylation status and gene transcript profiles of Glucocorticoid receptor, FKBP5, oxytocin and oxytocin receptors, Brain-derived neurotrophic factor (BDNF) genes. Assessed in blood from umbilical cord blood sample from infants, total group.

Measure: Methylation status and gene transcript profiles of relevance for early brain development and stress regulation in newborn infants

Time: At delivery.

Other Outcomes

Description: val158met (rs4680) status, binary variable, i.e. "val/val, val/met" vs "met/met" variants

Measure: COMT-genotype (rs4680) variant, i.e met/met vs other polymorphisms

Time: Prior to caesarean section.

Description: BDNF val66met (rs6265) status, binary variable, i.e. "val/val" versus "met-carrier" status

Measure: BDNF genotype (rs6265) status, i.e. val/val versus met-carrier variants

Time: Prior to caesarean section.

Description: 5-HTTLPR genotype status (binary), i.e. high-expressing LALA vs low-expressing (S or LG) variants, based on SLC6A4, i.e. L or S variants, and further subtyping on rs25531 haplotype L(A)L(A) vs LGLA, LGLG or variants containing as S as specified above.

Measure: 5-HTT genotype status, i.e LALA vs low-expressing (S or LG) variants

Time: Prior to caesarean section.

Description: In house interview based on Kennerley Maternity Blues Questionnaire, range: 0-28, higher score indicates more severe postpartum blues symptoms. High blues score is associated with greater risk for perinatal depression at week 3-6.

Measure: Postpartum blues symptoms

Time: Day 3-5 postpartum.

Description: In house interview based on Stein's Maternity Blues Scale, range 0-26. High blues score is associated with greater risk for perinatal depression at week 3-6.

Measure: Postpartum blues symptoms

Time: Day 3-5 postpartum.

25 Modulation of Cognitive Flexibility by Transcranial Direct Current Stimulation, Tyrosine Administration and Polymorphisms in the COMT Gene

The current study would examine whether increases in endogenous dopaminergic activity via tyrosine and the (presumed) excitation of these by anodal tDCS of the dlPFC could causally be related to cognitive flexibility as measured by task switching and reversal learning. Additionally, the study will test whether the Val158Met-polymorphism in the catechol- O-methyltransferase (COMT) gene could also predict the effect of TYR supplementation, as this gene is involved in DA degradation in the prefrontal cortex.

NCT03845920 Modulation of Cognitive Flexibility by Transcranial Direct Current Stimulation, Tyrosine Administration and Polymorphisms in the COMT Gene Combination Product: tdcs (sham/anodal) + drug (placebo/tyrosine)

Additionally, the study will test whether the Val158Met-polymorphism in the catechol- O-methyltransferase (COMT) gene could also predict the effect of TYR supplementation, as this gene is involved in DA degradation in the prefrontal cortex. --- Val158Met ---

Primary Outcomes

Description: Measuring change in perseverative errors in the WCST

Measure: Wisconsin Card Sorting Test (WCST) performance

Time: Measured twice in each session (4 arms): at time 0 and 80 minutes into testing.

Description: Measuring change in reversal errors in the WCST

Measure: Probabilistic Reversal Learning (PRL) performance

Time: Measured twice in each session (4 arms): at time 0 and 80 minutes into testing.

Description: Measuring change in conflict cost (defined as the difference in reaction time between congruent and incongruent responses)

Measure: Flanker Task performance

Time: Measured twice in each session (4 arms): at time 0 and 80 minutes into testing.

26 Cognitive Remediation and Supported Education in Psychotic Disorders: a Randomized Controlled Trial on the Efficacy and the Best Predictors of Academic Functioning

This trial aims to assess the added value of cognitive remediation therapy to supported education intervention in young adults with a psychotic disorder. The objectives of this study are threefold: The first objective is to evaluate the efficacy of supported education and cognitive remediation therapy for young adults with psychotic disorders in terms of academic outcome (primary outcome) and cognitive, neurobiological, and psychological outcomes (secondary outcomes). The second objective is to explore mechanisms of change in academic outcomes using a multidimensional approach (cognitive, psychological and biological characteristics) in youth with psychotic disorders. The third objective is to investigate the patients' perspectives regarding their appreciation of the supported education programs. Academic outcomes, cognitive performance as well as psychological and genetic variables will collected at baseline (T0). Participants will then be randomized either to the experimental condition (Cognitive remediation + Supported education + Treatment as usual) or the control condition (Supported education + Treatment as usual) for three months. Directly after the end of treatment (T1) and three months following the end of treatment (T2), the same measures as baseline will be repeated. One year post-treatment (T3), a last assessment will be conducted for academic outcomes.To assess qualitative experience of patients enrolled in supported education, we will recruit a subsample of the randomized controlled trial to participate in a photovoice activity.

NCT04040829 Psychotic Disorders Behavioral: Cognitive remediation therapy (CR) Behavioral: Supported education (SE) Other: Treatment as usual (TAU)
MeSH: Mental Disorders Psychotic Disorders
HPO: Psychosis

Presence or absence of a genetic variant (Met66Met) of the BDNF gene (Val66Met).. Presence or absence of the Val158Met polymorphism on the Catechol-O-Methyltransferase (COMT) gene. --- Val66Met --- --- Val158Met ---

Single nucleotide polymorphisms (SNP) in the 3' end of the COMT gene and the Val158Met polymorphism. --- Val158Met ---

Presence or absence of the Val158Met polymorphism on the Catechol-O-Methyltransferase (COMT) gene. --- Val158Met ---

Primary Outcomes

Description: The FESFS assesses different aspect of functioning including social functioning, productive activities and instrumental activities of daily living. Each question is rated on a Likert scale ranging from 1=Totally disagree to 4= Completely agree. The School subscale assesses the ability to meet deadlines, punctuality and school performance.

Measure: Mean change from baseline on the First-Episode Social Functioning Scale (School subscale)

Time: Baseline (T0; moment of enrollment in the study) to Post-treatment (T1; directly after the 3-months period of intervention)

Description: The FESFS assesses different aspect of functioning including social functioning, productive activities and instrumental activities of daily living. Each question is rated on a Likert scale ranging from 1=Totally disagree to 4= Completely agree. The School subscale assesses the ability to meet deadlines, punctuality and school performance.

Measure: Mean change from baseline on the First-Episode Social Functioning Scale (School subscale)

Time: Baseline (T0; moment of enrollment in the study) to 3-months post-treatment (T2; three months following the end of the intervention)

Description: The FESFS assesses different aspect of functioning including social functioning, productive activities and instrumental activities of daily living. Each question is rated on a Likert scale ranging from 1=Totally disagree to 4= Completely agree. The School subscale assesses the ability to meet deadlines, punctuality and school performance.

Measure: Mean change from baseline on the First-Episode Social Functioning Scale (School subscale)

Time: Baseline (T0; moment of enrollment in the study) to 1-year post-treatment (T3; one year following the end of the intervention)

Description: The FESFS assesses different aspect of functioning including social functioning, productive activities and instrumental activities of daily living. Each question is rated on a Likert scale ranging from 1=Totally disagree to 4= Completely agree. Relationships and social activities at school subscale assesses relationships with professors and students as well as participation in class.

Measure: Mean change from baseline on the First-Episode Social Functioning Scale (Relationships and social activities at school subscale)

Time: Baseline (T0; moment of enrollment in the study) to Post-treatment (T1; directly after the 3-months period of intervention)

Description: The FESFS assesses different aspect of functioning including social functioning, productive activities and instrumental activities of daily living. Each question is rated on a Likert scale ranging from 1=Totally disagree to 4= Completely agree. Relationships and social activities at school subscale assesses relationships with professors and students as well as participation in class.

Measure: Mean change from baseline on the First-Episode Social Functioning Scale (Relationships and social activities at school subscale)

Time: Baseline (T0; moment of enrollment in the study) to 3-months post-treatment (T2; three months following the end of the intervention)

Description: The FESFS assesses different aspect of functioning including social functioning, productive activities and instrumental activities of daily living. Each question is rated on a Likert scale ranging from 1=Totally disagree to 4= Completely agree. Relationships and social activities at school subscale assesses relationships with professors and students as well as participation in class.

Measure: Mean change from baseline on the First-Episode Social Functioning Scale (Relationships and social activities at school subscale)

Time: Baseline (T0; moment of enrollment in the study) to 1-year post-treatment (T3; one year following the end of the intervention)

Description: The Rubric tool assesses six domains of academic functioning, namely contributions, attitude, preparedness, focus on the task, professionalism and effort, and a composite score from those six scales. Based on the rating of several questions, a mean score of each domain, as well as a total score, will be obtained using a Likert scale that ranges from 1 (lowest the student can achieve) to 4 (highest the student can achieve).

Measure: Mean change from baseline on the Rubric tool

Time: Baseline (T0; moment of enrollment in the study) to Post-treatment (T1; directly after the 3-months period of intervention)

Description: The Rubric tool assesses six domains of academic functioning, namely contributions, attitude, preparedness, focus on the task, professionalism and effort, and a composite score from those six scales. Based on the rating of several questions, a mean score of each domain, as well as a total score, will be obtained using a Likert scale that ranges from 1 (lowest the student can achieve) to 4 (highest the student can achieve).

Measure: Mean change from baseline on the Rubric tool

Time: Baseline (T0; moment of enrollment in the study) to 3-months post-treatment (T2; three months following the end of the intervention)

Description: The Rubric tool assesses six domains of academic functioning, namely contributions, attitude, preparedness, focus on the task, professionalism and effort, and a composite score from those six scales. Based on the rating of several questions, a mean score of each domain, as well as a total score, will be obtained using a Likert scale that ranges from 1 (lowest the student can achieve) to 4 (highest the student can achieve).

Measure: Mean change from baseline on the Rubric tool

Time: Baseline (T0; moment of enrollment in the study) to 1-year post-treatment (T3; one year following the end of the intervention)

Secondary Outcomes

Description: The CVLT-II assesses verbal episodic memory. The test includes the learning of a list of words, followed by an immediate and a delayed recall.

Measure: Raw score change from baseline on the California verbal learning test-II (CVLT-II) (delayed recall).

Time: Baseline (T0; moment of enrollment in the study) to Post-treatment (T1; directly after the 3-months period of intervention)

Description: The CVLT-II assesses verbal episodic memory. The test includes the learning of a list of words, followed by an immediate and a delayed recall.

Measure: Raw score change from baseline on the California verbal learning test-II (CVLT-II) (delayed recall).

Time: Baseline (T0; moment of enrollment in the study) to 3-months post-treatment (T2; three months following the end of the intervention)

Description: The Rey complex figure test assesses visual episodic memory. The test includes the copy of a complex figure, followed by an immediate and a delayed recall.

Measure: Raw score change from baseline on the Rey Complex Figure test (delayed recall).

Time: Baseline (T0; moment of enrollment in the study) to Post-treatment (T1; directly after the 3-months period of intervention)

Description: The Rey complex figure test assesses visual episodic memory. The test includes the copy of a complex figure, followed by an immediate and a delayed recall.

Measure: Raw score change from baseline on the Rey Complex Figure test (delayed recall).

Time: Baseline (T0; moment of enrollment in the study) to 3-months post-treatment (T2; three months following the end of the intervention)

Description: The digit span subtest backward assesses verbal working memory. A series of number are read to the participant. The participant has to recall the numbers backward.

Measure: Raw score change from baseline on the digit span subtest backward of the Wechsler Adult Intelligence Scale-IV (WAIS-IV)

Time: Baseline (T0; moment of enrollment in the study) to Post-treatment (T1; directly after the 3-months period of intervention)

Description: The digit span subtest backward assesses verbal working memory. A series of number are read to the participant. The participant has to recall the numbers backward.

Measure: Raw score change from baseline on the digit span subtest backward of the Wechsler Adult Intelligence Scale-IV (WAIS-IV)

Time: Baseline (T0; moment of enrollment in the study) to 3-months post-treatment (T2; three months following the end of the intervention)

Description: The coding subtest assesses speed of processing. The participant has to match as many numbers as possible with symbols based on a key.

Measure: Raw score change from baseline on the coding subtest of the Wechsler Adult Intelligence Scale-IV (WAIS-IV)

Time: Baseline (T0; moment of enrollment in the study) to Post-treatment (T1; directly after the 3-months period of intervention)

Description: The coding subtest assesses speed of processing. The participant has to match as many numbers as possible with symbols based on a key.

Measure: Raw score change from baseline on the coding subtest of the Wechsler Adult Intelligence Scale-IV (WAIS-IV)

Time: Baseline (T0; moment of enrollment in the study) to 3-months post-treatment (T2; three months following the end of the intervention)

Description: The spatial span subtest backward assesses visual working memory. A board with blocks are presented to the participant. The assessor point series of blocks and the participant has to point the blocks backward.

Measure: Raw score change from baseline on the spatial span subtest backward of the Wechsler Memory Scale

Time: Baseline (T0; moment of enrollment in the study) to Post-treatment (T1; directly after the 3-months period of intervention)

Description: The spatial span subtest backward assesses visual working memory. A board with blocks are presented to the participant. The assessor point series of blocks and the participant has to point the blocks backward.

Measure: Raw score change from baseline on the spatial span subtest backward of the Wechsler Memory Scale

Time: Baseline (T0; moment of enrollment in the study) to 3-months post-treatment (T2; three months following the end of the intervention)

Description: The HRT-BC assesses sustained attention. Letters appear on a computer screen and the participant has to press the space bar as fast as possible, except when the letter is an "X". The HRT-BC reflects the reaction time between the six conditions of the CPT-3. In each condition, the letters are presented at a different rate. A higher HRT-BC score indicates a decrease of efficiency in information processing, which suggest difficulties in sustained attention.

Measure: Raw score change from baseline on the Hit Reaction Time Block Change (HRT-BC) of the Continuous Performance Test-3 (CPT-3)

Time: Baseline (T0; moment of enrollment in the study) to Post-treatment (T1; directly after the 3-months period of intervention)

Description: The HRT-BC assesses sustained attention. Letters appear on a computer screen and the participant has to press the space bar as fast as possible, except when the letter is an "X". The HRT-BC reflects the reaction time between the six conditions of the CPT-3. In each condition, the letters are presented at a different rate. A higher HRT-BC score indicates a decrease of efficiency in information processing, which suggest difficulties in sustained attention.

Measure: Raw score change from baseline on the Hit Reaction Time Block Change (HRT-BC) of the Continuous Performance Test-3 (CPT-3)

Time: Baseline (T0; moment of enrollment in the study) to 3-months post-treatment (T2; three months following the end of the intervention)

Description: The fourth condition of the Trail Making Test assesses cognitive flexibility. Letters and numbers are presented on a page.The participants has to connect these letters in alphabetical order and the numbers in numerical order while alternating between the numbers and letters

Measure: Raw score change from baseline on the fourth condition of the Trail Making Test (Delis-Kaplan Executive Function System; D-KEFS)

Time: Baseline (T0; moment of enrollment in the study) to Post-treatment (T1; directly after the 3-months period of intervention)

Description: The fourth condition of the Trail Making Test assesses cognitive flexibility. Letters and numbers are presented on a page.The participants has to connect these letters in alphabetical order and the numbers in numerical order while alternating between the numbers and letters

Measure: Raw score change from baseline on the fourth condition of the Trail Making Test (Delis-Kaplan Executive Function System; D-KEFS)

Time: Baseline (T0; moment of enrollment in the study) to 3-months post-treatment (T2; three months following the end of the intervention)

Description: The third condition of the color-word interference assesses inhibition. Name of color written in a different color of ink are presented to the participant. The participant has to name the color of the ink for each word as fast as possible.

Measure: Raw score change from baseline on the third condition of the color-word interference (Delis-Kaplan Executive Function System; D-KEFS)

Time: Baseline (T0; moment of enrollment in the study) to Post-treatment (T1; directly after the 3-months period of intervention)

Description: The third condition of the color-word interference assesses inhibition. Name of color written in a different color of ink are presented to the participant. The participant has to name the color of the ink for each word as fast as possible.

Measure: Raw score change from baseline on the third condition of the color-word interference (Delis-Kaplan Executive Function System; D-KEFS)

Time: Baseline (T0; moment of enrollment in the study) to 3-months post-treatment (T2; three months following the end of the intervention)

Description: The first condition of the verbal fluency subtest assesses phonemic fluency. The participant has to name as many word as possible in one minute that start by a given letter.

Measure: Raw score change from baseline on the verbal fluency subtest (first condition) (Delis-Kaplan Executive Function System; D-KEFS)

Time: Baseline (T0; moment of enrollment in the study) to Post-treatment (T1; directly after the 3-months period of intervention)

Description: The first condition of the verbal fluency subtest assesses phonemic fluency. The participant has to name as many word as possible in one minute that start by a given letter.

Measure: Raw score change from baseline on the verbal fluency subtest (first condition) (Delis-Kaplan Executive Function System; D-KEFS)

Time: Baseline (T0; moment of enrollment in the study) to 3-months post-treatment (T2; three months following the end of the intervention)

Description: The Tower of London assesses planning and organization. For this test, the assessor produces different models on his board using three beads (green, blue and red). The participant has to replicate the model using as few moves as possible.

Measure: Raw score change from baseline on the Tower of London (total item completed with the minimum movement)

Time: Baseline (T0; moment of enrollment in the study) to Post-treatment (T1; directly after the 3-months period of intervention)

Description: The Tower of London assesses planning and organization. For this test, the assessor produces different models on his board using three beads (green, blue and red). The participant has to replicate the model using as few moves as possible.

Measure: Raw score change from baseline on the Tower of London (total item completed with the minimum movement)

Time: Baseline (T0; moment of enrollment in the study) to 3-months post-treatment (T2; three months following the end of the intervention)

Description: The Matrix reasoning subtest assesses perceptual reasoning. Series of complex patterns are presented to the participant. The participant has to choose the logical end to each pattern.

Measure: Raw score change from baseline on the Matrix subtest of the Wechsler Adult Intelligence Scale-IV (WAIS-IV)

Time: Baseline (T0; moment of enrollment in the study) to Post-treatment (T1; directly after the 3-months period of intervention)

Description: The Matrix reasoning subtest assesses perceptual reasoning. Series of complex patterns are presented to the participant. The participant has to choose the logical end to each pattern.

Measure: Raw score change from baseline on the Matrix subtest of the Wechsler Adult Intelligence Scale-IV (WAIS-IV)

Time: Baseline (T0; moment of enrollment in the study) to 3-months post-treatment (T2; three months following the end of the intervention)

Description: The Combined stories test assesses theory of mind. Short stories are presented to the participant and questions regarding the mental states of the characters are asked.

Measure: Raw score change from baseline on the Combined Stories test

Time: Baseline (T0; moment of enrollment in the study) to Post-treatment (T1; directly after the 3-months period of intervention)

Description: The Combined stories test assesses theory of mind. Short stories are presented to the participant and questions regarding the mental states of the characters are asked.

Measure: Raw score change from baseline on the Combined Stories test

Time: Baseline (T0; moment of enrollment in the study) to 3-months post-treatment (T2; three months following the end of the intervention)

Description: The Social Knowledge test assess social perception. Situations of daily life are presented to the participant. The participant is asked to state the emotion that would be felt by most people in that situation.

Measure: Raw score change from baseline on the Social Knowledge test

Time: Baseline (T0; moment of enrollment in the study) to Post-treatment (T1; directly after the 3-months period of intervention)

Description: The Social Knowledge test assess social perception. Situations of daily life are presented to the participant. The participant is asked to state the emotion that would be felt by most people in that situation.

Measure: Raw score change from baseline on the Social Knowledge test

Time: Baseline (T0; moment of enrollment in the study) to 3-months post-treatment (T2; three months following the end of the intervention)

Description: The Penn Emotion Recognition task assesses emotion recognition. Faces expressing emotions are presented on a computer screen. The participant has to determine the emotion expressed by the character among the seven choices.

Measure: Raw score change from baseline on the Penn Emotion Recognition task

Time: Baseline (T0; moment of enrollment in the study) to Post-treatment (T1; directly after the 3-months period of intervention)

Description: The Penn Emotion Recognition task assesses emotion recognition. Faces expressing emotions are presented on a computer screen. The participant has to determine the emotion expressed by the character among the seven choices.

Measure: Raw score change from baseline on the Penn Emotion Recognition task

Time: Baseline (T0; moment of enrollment in the study) to 3-months post-treatment (T2; three months following the end of the intervention)

Description: The Échelle de Répercussion Fonctionnelle assesses functional impact of cognitive deficits in daily living using a semi-structured interview. The severity of the functional impact is rated on a Likert scale from 1= no impact to 7=important impact.

Measure: Raw score change from baseline on the Échelle de Répercussion Fonctionnelle

Time: Baseline (T0; moment of enrollment in the study) to Post-treatment (T1; directly after the 3-months period of intervention)

Description: The Échelle de Répercussion Fonctionnelle assesses functional impact of cognitive deficits in daily living using a semi-structured interview. The severity of the functional impact is rated on a Likert scale from 1= no impact to 7=important impact.

Measure: Raw score change from baseline on the Échelle de Répercussion Fonctionnelle

Time: Baseline (T0; moment of enrollment in the study) to 3-months post-treatment (T2; three months following the end of the intervention)

Description: The PANSS is a semi-structured interview that assess clinical symptoms of psychotic disorder, including positive symptoms, negative symptoms and general psychopathology.

Measure: Raw score change from baseline on the Positive And Negative Syndrome Scale (PANSS)

Time: Baseline (T0; moment of enrollment in the study) to Post-treatment (T1; directly after the 3-months period of intervention)

Description: The PANSS is a semi-structured interview that assess clinical symptoms of psychotic disorder, including positive symptoms, negative symptoms and general psychopathology.

Measure: Raw score change from baseline on the Positive And Negative Syndrome Scale (PANSS)

Time: Baseline (T0; moment of enrollment in the study) to 3-months post-treatment (T2; three months following the end of the intervention)

Description: The SERS assesses self-esteem. The questionnaire includes 20 questions rated on a Likert scale from 1=Never to 7=Always

Measure: Raw score change from baseline on the Self-Esteem Rating Scale (SERS)

Time: Baseline (T0; moment of enrollment in the study) to Post-treatment (T1; directly after the 3-months period of intervention)

Description: The SERS assesses self-esteem. The questionnaire includes 20 questions rated on a Likert scale from 1=Never to 7=Always

Measure: Raw score change from baseline on the Self-Esteem Rating Scale (SERS)

Time: Baseline (T0; moment of enrollment in the study) to 3-months post-treatment (T2; three months following the end of the intervention)

Description: The SSTICS assesses metacognitive knowledge, i.e., participant' perceptions of his cognitive abilities. The questionnaire includes 21 questions rated on a Likert scale ranging from 0=Never to 4=very often.

Measure: Raw score change from baseline on the Subjective Scale to Investigate Cognition in Schizophrenia (SSTICS)

Time: Baseline (T0; moment of enrollment in the study) to Post-treatment (T1; directly after the 3-months period of intervention)

Description: The SSTICS assesses metacognitive knowledge, i.e., participant' perceptions of his cognitive abilities. The questionnaire includes 21 questions rated on a Likert scale ranging from 0=Never to 4=very often.

Measure: Raw score change from baseline on the Subjective Scale to Investigate Cognition in Schizophrenia (SSTICS)

Time: Baseline (T0; moment of enrollment in the study) to 3-months post-treatment (T2; three months following the end of the intervention)

Description: The FESFS assesses different aspect of functioning including social functioning, productive activities and instrumental activities of daily living. Each question is rated on a Likert scale ranging from 1=Totally disagree to 4= Completely agree

Measure: Raw score change from baseline on the First-Episode Social Functioning Scale (FESFS)

Time: Baseline (T0; moment of enrollment in the study) to Post-treatment (T1; directly after the 3-months period of intervention)

Description: The FESFS assesses different aspect of functioning including social functioning, productive activities and instrumental activities of daily living. Each question is rated on a Likert scale ranging from 1=Totally disagree to 4= Completely agree

Measure: Raw score change from baseline on the First-Episode Social Functioning Scale (FESFS)

Time: Baseline (T0; moment of enrollment in the study) to 3-months post-treatment (T2; three months following the end of the intervention)

Description: The CTQ assesses adverse events experienced during childhood and adolescence. The CTQ includes 70 items rated on a Likert scale ranging from 1=Never true to 5=very often true

Measure: Raw score change from baseline on the Childhood Trauma Questionnaire (CTQ)

Time: Baseline (T0; moment of enrollment in the study) to Post-treatment (T1; directly after the 3-months period of intervention)

Description: The CTQ assesses adverse events experienced during childhood and adolescence. The CTQ includes 70 items rated on a Likert scale ranging from 1=Never true to 5=very often true

Measure: Raw score change from baseline on the Childhood Trauma Questionnaire (CTQ)

Time: Baseline (T0; moment of enrollment in the study) to 3-months post-treatment (T2; three months following the end of the intervention)

Description: Presence or absence of a genetic variant (Met66Met) of the BDNF gene (Val66Met).

Measure: Presence or absence of a genetic variant (Met66Met) of the Brain-derived neurotrophic factor (BDNF) gene (Val66Met) at baseline

Time: Baseline (T0; moment of enrollment in the study) to Post-treatment (T1; directly after the 3-months period of intervention)

Description: Presence or absence of a genetic variant (Met66Met) of the BDNF gene (Val66Met).

Measure: Presence or absence of a genetic variant (Met66Met) of the Brain-derived neurotrophic factor (BDNF) gene (Val66Met) at baseline

Time: Baseline (T0; moment of enrollment in the study) to 3-months post-treatment (T2; three months following the end of the intervention)

Description: Single nucleotide polymorphisms (SNP) in the 3' end of the COMT gene and the Val158Met polymorphism

Measure: Presence or absence of the Val158Met polymorphism on the Catechol-O-Methyltransferase (COMT) gene

Time: Baseline (T0; moment of enrollment in the study) to Post-treatment (T1; directly after the 3-months period of intervention)

Description: Single nucleotide polymorphisms (SNP) in the 3' end of the COMT gene and the Val158Met polymorphism

Measure: Presence or absence of the Val158Met polymorphism on the Catechol-O-Methyltransferase (COMT) gene

Time: Baseline (T0; moment of enrollment in the study) to 3-months post-treatment (T2; three months following the end of the intervention)


HPO Nodes


Schizophrenia
Genes 71
USH1C RTN4R USH1G HIRA UPF3B GJA5 DNAJC13 DNMT3A KRT86 HTR2A APOL4 CLRN1 DRD3 CEP78 ARSG MSTO1 TRNE PRODH RREB1 GIGYF2 PDZD7 MTHFR RBM12 ADGRV1 NKX2-1 TRNS2 KRT83 SNCA MYO7A COMT CIB2 PCDH15 WHRN TBX1 GP1BB DSG4 ZDHHC9 ARSA ARVCF WFS1 PRODH PSAP APOL2 SEC24C KRT81 LRRK2 CHI3L1 MYO7A ATP2A2 SHANK3 SYN2 EIF4G1 CHRNA7 GBA FLI1 MED12 VPS35 JMJD1C MSTO1 USH2A AKT1 GJA8 TBX1 COMT UFD1 PRODH DISC2 TBX1 HARS1 CDH23 DAOA
Psychosis
Genes 116
TWNK SNRPN GRN NAGS SNORD116-1 SLC7A7 PRKAR1A UPF3B TREX1 TREM2 TRNH WFS1 IPW CLN8 ALDH5A1 SPART PCDH19 ND4 AIP NPAP1 LMBRD1 TRNL1 MKRN3 SLC25A13 PSEN1 ABCD1 MECP2 C1R TRNQ NDP RPS6KA3 PTPN22 ZDHHC9 STAT4 ATXN7 TRNS2 PRDM8 VCP HMBS GSS DCAF17 PARK7 FCGR2B PDE11A ITM2B TBC1D7 ZFYVE26 SPP1 TRNS1 PANK2 SQSTM1 CTLA4 PDGFB PWRN1 USP8 MED12 SLC20A2 HFE NPC2 NHLRC1 SLC12A6 C9ORF72 NDN COX1 CHMP2B MAGEL2 CBS MKRN3-AS1 EPM2A TRNF VPS13A PAH ALDH18A1 PAK3 NPC1 ND1 USP8 TMEM106B PWAR1 MAPT PDGFB KCNT1 TRNW COX3 NDP ALAD GCLC CDH23 PCDH19 C1QA C9ORF72 PRNP CLN3 MYORG COX2 DNASE1 PPOX SLC6A19 SOBP DCAF17 SNORD115-1 WFS1 IRAK1 FCGR2A ND6 TTC19 SH2B1 MED12 GNAS DNMT1 ND5 CACNA1A ACADS HERC2 PDGFRB ATP13A2
Depressivity
Genes 377
AMACR BAZ1B PDCD1 PRKAR1A KCTD17 AFG3L2 DNAJC13 NSMF PRPH TBP DNA2 TOR1A UBQLN2 MED25 WFS1 TRNL1 ADH1C ND4 GNAS RFC2 FGF14 HMBS PLA2G6 SPAST PRKCG HTR2A SQSTM1 ATRX GABRA1 FGF8 FUS CLCN4 LMNB1 CLN6 TRNS2 GDAP2 PON2 GSN SNCA FAN1 XK TWNK PTS TRNQ RPS6KA3 TBX1 GLT8D1 OPTN PINK1 GTF2IRD1 NHLRC1 GBA TRNN PANK2 CRBN GNRH1 PSAP NDST1 GLUD2 SOD1 DNAJC6 LRRK2 DNMT1 PDE11A TAC3 DRD2 MAN1B1 HTT AP2S1 SPRY4 PGAP1 CBS SQSTM1 TOR1A AIMP1 TUSC3 PDGFB TWNK FMO3 SLC20A2 MECP2 CACNA1G CDH23 C9ORF72 FUS GPR35 TARDBP C9ORF72 HIRA IDUA HLA-DQB1 PRSS12 C9ORF72 CLIP2 PIGC HNMT JRK TRNF PAH CLRN1 ATXN2 CPOX CEP78 MSTO1 ELN CLCN4 CISD2 PROK2 PDGFB SGCE SLC6A4 KCNT1 PDGFRB UCHL1 MATR3 GABRG2 SMPD1 PRNP GNRHR KISS1R COQ2 HS6ST1 TNIK NEFH MAPT C9ORF72 ATP13A2 PARK7 NSUN2 SLC25A4 CCNF ANXA11 HLA-DQB1 TBL2 CPOX SNCAIP FIG4 TARDBP NOTCH3 LINS1 VAPB BMPR1A ARVCF SLC18A2 C19ORF12 MAPT ATXN10 POLG SLC45A1 KDM5B MST1 SEC24C B3GALNT2 MLH3 PPT1 FRRS1L JPH3 WDR11 PODXL ND6 ARMC5 HTRA2 AIP CRADD TTC19 MED23 ZC3H14 JMJD1C PRNP USH2A ATP1A3 TRNS1 ND5 EDC3 COASY UNC13A COMT UFD1 VCP POLG FMR1 PMS1 FMN2 PRNP PRNP CHD7 DCPS METTL23 DCTN1 TRNL2 GBA PPP2R2B ATP7B GTF2I USH1G PTPN22 SRPX2 TACR3 TWNK GNA11 TMEM106B SNCA CSF1R MLH1 TRNH PMS2 CLIP1 POLG2 ATXN8OS CASR VPS13C PON1 RSRC1 PPOX VCP HLA-DRB1 EZR DUSP6 BCS1L DCTN1 EHMT1 TRNL1 PRNP PDZD7 MSH6 MAPT EPHA4 POLG THOC2 CRKL CYP27A1 PLA2G6 ANG CC2D1A DCTN1 MYO7A CACNA1H HTT DNAJC5 COQ2 GRIN2A GP1BB DGUOK PRKN CHMP2B KRAS ARSA NR4A2 HNRNPA1 CHMP2B WASHC4 TRNS2 ATXN10 MSH2 CFAP410 PFN1 HMBS CACNA1G GNAS MYO7A SLC2A1 PINK1 POLG C9ORF72 PSEN1 ANOS1 PIK3CA ALMS1 TBC1D7 VCP TRNS1 PANK2 GBA TK2 LIMK1 CHCHD10 XPR1 PPARGC1A RPS20 USP8 ST3GAL3 ARMC5 HARS1 KCTD17 TAF15 AARS2 PER3 FGF14 CTSF TBP MECP2 MBOAT7 POLG PAH TREM2 USH1C TREM2 COX1 TBK1 C12ORF4 WARS2 STX16 ATXN8 SGCE ND1 ATXN8OS PRKACA TBK1 ARSG MAPK1 ATXN2 GRN ABCA7 OCRL KCNJ2 TRNW CHCHD10 COX3 RREB1 DAO GIGYF2 GPR101 TECR CDH23 ATP1A3 EPCAM ADGRV1 GNAS TCF4 GNAS GABRG2 PRNP KISS1 TGFBR2 SEMA4A TWNK GCH1 CIB2 COX2 FGFR1 PCDH15 WHRN LRRK2 TRAPPC9 RRM2B FMR1 RRM2B WFS1 FA2H FGF17 HBB PDGFRB SARS1 BCR EIF4G1 POLG ERBB4 GLA PER2 FBXO31 PON3 GLE1 PROKR2 VPS35 NEK1 MSTO1 LMAN2L GNAS DNMT1 GABRB3 CP TBX1 EPM2A PDGFRB GRIK2 SNCA VCP
Dysmenorrhea
Genes 16
PPARG LMNA FOS CYB5A CAVIN1 ANTXR1 INHBA CYP17A1 GPR101 PPARG CAV1 LMNA AGPAT2 CYP17A1 BSCL2 AIP
Vomiting
Genes 258
CYP11A1 ACY1 RANBP2 AIMP1 NDUFA1 ND5 MPV17 NDUFB3 POLG TRNW COA8 ND6 HNF1A ND1 SLC25A15 HSD3B2 TRNS1 COQ2 CPS1 TRNV MCCC2 TYMP DBT MCCC1 ACADM SLC25A13 ETFA TYMP COX2 DHCR7 FBP1 NUBPL NDUFB10 SERPING1 TRNQ ACAD8 ACTG2 HMGCL BCKDHA CD55 STAT4 CYP24A1 CCM2 ND6 NBAS PMM2 CTNNB1 SCNN1B RELA CDH23 ALG11 NDUFAF5 HELLPAR PMM2 CPT2 NAXD TRNV CFH SUGCT NDUFV2 COX3 ND2 PPM1D RET HPRT1 GCDH TRMU HFE ABCC8 PCCB MMAB NDUFA11 OPLAH NDUFAF4 ALG8 MLYCD SLC7A7 ALDOB GLA BRAF CDH23 TRNW BTD SERPING1 PNPLA8 FARSB CPOX NDUFS2 NEUROG3 SLC22A5 BOLA3 SHANK3 HLCS ACAT1 CYP11B2 BCKDHB SCNN1G CFI NAGS CYTB GHSR ABCC8 TNFRSF1A KMT2E OTC CD46 SSR4 TNF SCNN1A ASS1 TP53 ST3GAL5 PPOX AIP FLNA INHBA SLC22A5 ACAT1 MC2R RARS1 GALC OXCT1 EGFR AQP2 PDSS2 NDUFV1 ELP1 NDUFS1 ACSF3 ACP2 MRPS7 ACADL ARG1 COX1 F12 ACADM AVP TRNF NDUFB11 SAR1B ALG11 ALPL TCN2 POLG DGAT1 NAGS MET SLC7A7 ACADVL HMGCL TXNRD2 TRNS2 ND3 SERPING1 NDUFS7 NNT UCP2 ST3GAL5 NDUFAF3 FOXP3 NDUFV1 TRNK ND4 SLC25A15 ND2 ALDH18A1 MMAA C1R NDUFS1 DBH KRIT1 SLC1A3 ND1 NDUFS4 LIPA HMBS CLMP ETFB ALAD ACADVL NDUFA6 SMPD1 SPP1 GALE AVPR2 GK GALT ALDOB TRNL1 SLC12A3 NDUFS3 ADNP MPI TRNL1 ND1 NDUFS8 KCNJ1 SAR1B ZEB2 SAA1 NDUFS6 ASL STAR MRAP TRNC POLG MVK MTHFD1 ATP6V0A4 HNF4A D2HGDH NDUFB9 LPL MEN1 CYP11B1 SLC12A1 CYP11A1 HADH STK11 CACNA1A C1QA TIMMDC1 TRNK SLC6A8 ESR1 ETFDH HIBCH APC FOXRED1 ALG3 NR3C2 EDNRA ND3 PDCD10 PIGY IRAK1 ACSF3 DGUOK C11ORF95 MMUT CTNS TMEM126B KCNJ11 ND5 PHGDH NDUFAF1 PCCA MVK HMGCS2 ATP6 NDUFAF2 IVD NEUROG3 ATRX NDUFS4 RRM2B KCNJ11 DLD
Spastic dysarthria
Genes 31
AP4M1 AP4B1 AFG3L2 ALS2 SYNE1 SLC52A2 GBA2 ERLIN2 ALDH18A1 PEX6 ATP2B3 ATXN8 TDP1 ATXN8OS GBA2 GJB1 MAPT RAB3GAP2 AP4E1 SPART VAMP1 SPG7 PRNP ALS2 MARS2 AP4S1 GLRX5 POLR3A MAG ALDH18A1 ALS2
Non-Hodgkin lymphoma
Genes 32
ATM FAS CASP10 CTLA4 FAS BCL10 CD28 BIRC3 FOXP1 TNFRSF1B MYC CCND1 ASXL1 ATM MALT1 CTLA4 CD28 SRSF2 KIT POLE IGH ADA TET2 FASLG PIK3R1 NTHL1 RASGRP1 TNFRSF1B PRKCD NBN RHOH IGH
Fatigue
Genes 389
MPL RPL18 BIRC3 OPA1 JAK2 POU2AF1 TET2 ATRX POU1F1 SLC40A1 SQSTM1 PAX8 SCNN1B KIT SLC25A11 PON2 COQ2 PROKR2 PIGA IRF2BP2 OPTN HMGCL MMACHC HBA1 PODXL ERCC4 SLC2A10 PREPL RPL15 SCNN1G FOXA2 ADA2 RPS7 FUS SYNJ1 IL12B SLC11A1 DYSF MEN1 CDH23 BRCA2 HLA-B TRNF DMD PNPLA8 TBL1XR1 FIP1L1 LHX3 BCOR HLA-DPB1 ATP13A2 BCR TNXB DUOX2 IL10 COL5A1 GCK AIP BMPR1A IL12A-AS1 SPIB NABP1 MC2R CALR PHKG2 TSC1 MST1 FH RPL31 CCND1 TMEM127 ARMC5 RUNX1 DNAJC6 NUMA1 AIP RPS26 SDHA ELANE RPS27 IL12RB1 TCF3 ND5 MMEL1 VCP SMAD3 CDKN2A SOX2 MET VHL RPL11 BLNK IGH TXNRD2 TWNK FOXP1 HFE TRNH PMS2 SERPINA6 CD79B PROP1 FGFR1 IYD KCNQ2 NNT TSHR SLC26A4 TRNL1 STAT6 NKX2-1 POLG CPT1A ANG KRAS FGF23 CCDC78 VHL TSHR DBH POU1F1 VPS13A KRAS HNRNPA1 MSH2 CFAP410 PFN1 NLRP3 GATA2 ATM JAK2 TAZ C9ORF72 DUOXA2 TRNS1 SDHD CHCHD10 GATA1 NPM1 RPS20 USP8 MPL HAVCR2 COL1A1 TPO TREM2 PTPN22 FTL SCN2A KIT PRKAR1A COX1 HESX1 STAR RPL5 MRAP FOXE1 TRNW COX3 DAO GPR101 LHX4 RPL35 TSC2 IL12A KLRC4 KIF1B TGFBR2 BTK HLA-B NKX2-5 COX2 PDGFRA PAX8 RET RRM2B SMAD4 RPS19 ALB BTNL2 NLRC4 SDHA ERBB4 GLA PON3 GLE1 ZBTB16 NEK1 CDC73 ERCC3 PRTN3 TBX19 SLC5A5 STAT5B COL5A2 RPL35A OTX2 BCL10 CCR1 HNF1A PRPH TFR2 UBQLN2 OTX2 PALLD ND4 ERCC2 KCNQ3 MYH7 GNAS WIPF1 SLC26A4 HLA-B CPT2 FAN1 TWNK TRNQ GLT8D1 PROP1 HESX1 PML CTNNB1 SOD1 C1QBP TET2 RARA NR3C1 PDE11A CDH23 AP2S1 HELLPAR TNFSF15 ABCC2 TRNK CFH MDH2 RPL26 CHRND NLRC4 GPR35 HLA-DPA1 TET2 AGK SLC25A26 MYD88 INSR CAV3 SCNN1A SLC18A2 ATXN2 NR3C1 RPS10 BCL2 MATR3 GBA CFI NEFH PIGT ABL1 PRKACA SLC25A4 CD46 LBR CCNF MAX ANXA11 DNM1L IGHM FIG4 TARDBP VAPB TP53 IL12A IL23R MLH3 ND6 STEAP3 ARNT2 ATP13A2 TG ACADM DLST UNC13A PMS1 SDHB STAT3 TNPO3 RPS15A NAGS PTPN22 TK2 ATP7A MLH1 SDHAF2 POLG2 SDHC PON1 RPS29 ERAP1 SDHB MSH6 EPHA4 LHX4 GLI2 SLC18A3 DCTN1 IGH LRRC8A CHMP2B HESX1 TRNS2 BCL6 SDHC PRKAR1A HBA2 IGLL1 PIK3CA PSTPIP1 SCN8A TSHB CTLA4 CD79A PPARGC1A BRCA1 FAS RPL27 ARMC5 ALB SLC12A3 TAF15 WAS PGM1 HLA-DRB1 TLR4 PROP1 STAT4 ERCC5 IKZF1 RPS24 KCNQ1 SOX3 SH2B3 PLEC CCND1 TET2 CDC73 ND1 HNF4A TBK1 NAB2 PIK3R1 IGH PDE8B ALAS2 HLA-DRB1 MEN1 CDH23 EPCAM NLRP3 TCF4 PTPN3 SLC3A1 MMADHC SEMA4A XPA UBAC2 PRRT2 GCH1 C4A DDB2 TSR2 MALT1 PALB2 PHKA2 MEFV SOX3 RPS17 IRF5 POMGNT1 XPC CPT2 RPS28 EPOR KIF23 KCNE1 JAK2 SMAD3 NFKB2 MLX
Leukemia
Genes 190
ATM KRAS KIT RPS15A NF1 MPL RPL35A RPL11 RPL18 DDX41 SBDS LPP ETV6 BUB1B F13A1 DNMT3A JAK2 NUP214 FANCD2 MSH6 FANCA PIGL NRAS TCIRG1 BUB1 TET2 FLT3 TAL1 ATRX TREX1 PDGFRA SRP54 RPS29 PTPN11 CALR FANCE WIPF1 SF3B1 GATA2 GLI1 STS SH3GL1 XRCC4 MPL SH2B3 EFL1 PIGA TREM2 CBL MPL RUNX1 MPL PIGL THPO FANCG NSD1 BRD4 NSUN2 SH2B3 RARA GATA2 NPM1 CBL CHIC2 ERBB3 GFI1 TERT KIT BCR ARHGAP26 DYNC2LI1 EVC SCN10A GATA1 ELANE RNASEH2B RPS14 SH2B3 JAK2 RPL15 SBDS NRAS RPL26 RPL27 ADA2 RPS7 TYROBP F13B MSH2 BCR WAS TERC TP53 TRIP13 MYD88 NUTM1 RPS24 GNB1 TP53 DNMT3A TERT NUMA1 NUP214 RPL5 SAMD9L TET2 CFTR POT1 FANCC RPS10 EP300 EVC2 BUB1B CEBPA BRCA2 DNAJC21 CALR SCN9A LIG4 ADAR BLM TET2 JAK2 SMPD1 RNASEH2C SCN11A GATA2 BUB3 PRSS1 KIF11 BCR RPL35 TAL2 SRP54 IFIH1 ABL1 PDGFRB KRAS RNASEH2A TET2 MLLT10 SRP54 DNAJC21 DKC1 RUNX1 APC LIG4 CBFB BLM THPO CALR NBN JAK2 MLH1 RPS19 ELANE SAMD9L RPL31 PMS2 ASXL1 TSR2 MLF1 PIK3CA DNAJC21 RUNX1 GFI1 SRSF2 SETBP1 HAX1 RPS26 RPS17 FLT3 RPS27 PIK3R1 KRAS CEP57 PICALM CREBBP GATA2 CTRC MYD88 TET2 RPS28 ABL1 RB1 SPINK1 GATA1 NBN JAK2 SAMHD1
Dementia
Genes 277
TIMM8A ATXN2 PRICKLE1 GRN SLC13A5 ZFYVE26 WDR45 POLG CHMP2B CYP27A1 DNAJC13 ND1 OPA1 TREM2 SNCA TBP TRNS1 SQSTM1 WFS1 TREM2 ADH1C APOE TYMP PLA2G6 SPAST RNF216 FUS CLN6 ERCC4 PSEN1 COX2 HTRA1 TARDBP SNCA TRNQ NDP PINK1 IRF6 NHLRC1 VPS13C GBA ND6 PANK2 DNMT1 PSAP HNRNPA1 GLUD2 DNAJC6 LRRK2 MECP2 ITM2B NOS3 HTT SQSTM1 ATXN2 SQSTM1 MAPT GRN APP NOTCH2NLC ATP6V1E1 KCTD7 TRNV SDHA MAPT COX3 GBA2 RAB39B TREM2 ROGDI WFS1 SNCA TYROBP C9ORF72 NPC2 MAPT PNPLA6 NHLRC1 TARDBP WDR45 HLA-DQB1 SCARB2 C9ORF72 TRNW HTT NPC1 ATP6 GBA2 TRNE TMEM106B MAPT RNF216 PDGFB PDGFRB UCHL1 PRNP GBA SNCA JPH3 HNRNPA2B1 LRRK2 CYTB MAPT C9ORF72 APP PARK7 APTX APP CLN3 ATP13A2 PSEN1 SDHD DNM1L ASAH1 ATXN3 SNCAIP ROGDI NOTCH3 GBE1 C19ORF12 MAPT ATXN10 ATP6 JPH3 PSEN1 TTR PODXL HTRA2 COL4A1 PSEN1 APP SLC2A3 COX1 PRNP ATP13A2 APP MBTPS2 TRNF CUBN FMR1 PRNP ATP13A2 POLG DCTN1 CHMP2B TUBB4A GBA PPP2R2B SDHAF1 HEXA CST3 TWNK ATP6V0A2 GRN TMEM106B SNCA TREX1 CSF1R TRNS2 MATR3 PRNP CHMP2B AMN MAPT SNCB VPS13C ATP6V1A APP VCP MAPT CSTB DCTN1 GM2A SORL1 TRNK PRNP PRNP PSEN1 ABCD1 CP PLA2G6 HTT DNAJC5 UBQLN2 TREM2 DGUOK PRKN ARSA NR4A2 ATP13A2 CHMP2B ATN1 PRDM8 VCP PSEN1 PSEN2 PINK1 PLAU PSEN1 CISD2 TRPM7 CFAP43 CHCHD10 MPO HFE VCP GBA ATP7B XPR1 ITM2B TUBA4A FTL HNRNPA2B1 CERS1 AARS2 CTSF TBP SERPINI1 MATR3 TRNL1 SPG21 PPP2R2B TREM2 TBK1 CHMP2B ABCA7 TYROBP EPM2A TRNC VPS13A ALDH18A1 NOTCH3 ATXN8OS ATXN2 TOMM40 GRN FTL CHCHD10 TMEM106B VCP GIGYF2 C9ORF72 PRNP APOE PSEN2 FBXO7 SDHB ADA2 LRRK2 PANK2 FMR1 PRKAR1B C9ORF72 ND5 MAPT EIF4G1 CFAP43 APP VPS35 SPG21 ERCC8 VCP DNMT1 MMACHC A2M CP HTRA1 TBK1 ASAH1 ALDH18A1 ATN1 RRM2B EPM2A GBA PRDX1 SNCA VCP
Bulimia
Mental deterioration
Genes 462
TIMM8A PRNP GRN SCN9A CSF1R WDR45 RNASEH1 PRKAR1A CHMP2B SCN1A SLC6A1 CYP27A1 ATP1A3 DNAJC13 ND1 OPA1 SNCA QDPR TRNS1 APOL4 CTC1 SNORD118 DRD3 ADH1C PARS2 APOE TYMP GABRB3 BSCL2 CPLX1 FUS LMNB1 ERCC4 GABRA2 AP5Z1 COX2 SCN1A TIMMDC1 SNCA YWHAG TRNQ IRF6 UBA5 GBA DNMT1 PSAP HNRNPA1 APOL2 SCN3A DNAJC6 DNMT1 PDE11A SYN2 ITM2B RAB27A HTT SUMF1 ATP6V1E1 GABRG2 SDHA COX3 GBA2 HEXB WFS1 TYROBP C9ORF72 RRM2B NPC2 SURF1 PNPLA6 NHLRC1 DAOA ERCC6 SCARB2 C9ORF72 CNTNAP2 UBTF HTT RNF216 PDGFRB UCHL1 PRNP HNRNPA2B1 LRRK2 NDUFS2 CYTB MFSD8 TINF2 APP APP CLN3 ATP13A2 PSEN1 ASAH1 ATXN3 SNCAIP BSCL2 DCAF17 NOTCH3 STXBP1 GBE1 AP2M1 GALC ATP6 IDUA HSD17B10 PPT1 JPH3 PSEN1 TTR PODXL PSEN1 APP COX1 PRNP APP COASY CTSD SPG11 GRN PRNP ATP13A2 POLG DCTN1 CHMP2B PPP2R2B SDHAF1 HEXA CST3 TWNK ATP6V0A2 GRN XPA TMEM106B SNCA CSF1R MATR3 PRNP MAPT CHMP2B AMN MAPT ERCC2 COL18A1 APP MAPT CSTB TRNK C19ORF12 MTHFR PSEN1 CP UBQLN2 TREM2 CLN8 PRKN CACNA1B ARSA NR4A2 ATN1 PRDM8 VCP RBM28 PSEN1 FA2H PINK1 PLAU TRPM7 CFAP43 HFE VCP GBA NDUFB8 ATP7B NDUFA6 XPR1 TUBA4A TRAK1 AKT1 SYNGAP1 CHD2 HNRNPA2B1 CERS1 AARS2 CTSF TBP SYNJ1 SERPINI1 MATR3 TRNL1 WWOX GABRB2 MAPT PSAP ABCA7 KCNA2 TRNC ALDH18A1 NOTCH3 MAPK10 PLP1 GRN FTL CHCHD10 TMEM106B TTPA VCP C9ORF72 TIMM8A NUS1 FGF12 PSEN2 FBXO7 LRRK2 HIBCH EEF1A2 PANK2 CUX2 FMR1 PRKAR1B PDGFRB NTRK2 CHI3L1 ND5 MAPT EIF4G1 HEPACAM VPS35 SPG21 GNAS TREX1 CLTC ALDH18A1 EPM2A PDGFRB CHD2 SYNJ1 GBA PRDX1 ATXN2 PRICKLE1 DHDDS RTN4R SLC13A5 ZFYVE26 NRAS POLG SCN8A HNF1A KCNA2 TREM2 TBP HTR2A SQSTM1 WFS1 TREM2 CLN8 PLA2G6 SPAST PRKCG NDUFAF3 RNF216 CLN6 PLA2G6 GDAP2 GBA PSEN1 SUMF1 HTRA1 TARDBP NDP PINK1 MFN2 NECAP1 NHLRC1 VPS13C ATXN7 ND6 PANK2 PSAP GLUD2 PTS GCH1 LRRK2 MECP2 NOS3 FA2H SQSTM1 ATXN2 ARSA TRNK SQSTM1 MAPT GRN APP RBM28 NOTCH2NLC PDGFB TBC1D24 PDE10A KCTD7 TRNV MAPT ACTB MAPT RAB39B TREM2 ROGDI SNCA SLC20A2 MAPT ABCC8 CTNS TARDBP CYFIP2 GRIN2D CLN6 WDR45 DNM1 HLA-DQB1 ATP1A2 UBAP1 TRNW NPC1 ATP6 GLB1 GBA2 TRNE TMEM106B MAPT PDGFB GBA SNCA JPH3 SMC1A MAPT C9ORF72 PARK7 NAGLU APTX MYORG SDHD DNM1L SLC1A2 ROGDI PRDM8 C19ORF12 MAPT ATXN10 PLEKHG4 HTRA2 DARS2 HGSNAT COL4A1 SLC2A3 ATP13A2 MBTPS2 TRNF CUBN FMR1 NBN TLR3 TUBB4A GBA SLC13A5 TK2 SGPL1 AARS1 TREX1 TRNS2 KCNC1 SNCB VPS13C ATP6V1A AP3B2 VCP RRM2B UCP2 DCTN1 GM2A SORL1 PRNP PRNP MAPT ABCD1 ARV1 PLA2G6 TBK1 HTT DNAJC5 DGUOK ARSA ATP13A2 CHMP2B CSTB SPG11 PSEN2 PSEN1 CISD2 CHCHD10 MPO ATXN7 ITM2B FTL HCN1 CACNA1A MCOLN1 PAH SPG21 KMT2A PPP2R2B ADA2 TREM2 TBK1 CHMP2B TYROBP EPM2A VPS13A ATXN8OS HNF4A SCO2 GABRA5 PPP3CA ATXN2 TOMM40 GIGYF2 PRNP APOE SZT2 COMT SDHB ADA2 SQSTM1 ACTL6B ST3GAL5 CNKSR2 FA2H C9ORF72 KCNJ11 CLN5 SYNJ1 TBP KCNB1 CFAP43 APP ATP6V1A ERCC8 GBA VCP DNMT1 DNM1 MMACHC A2M CP HTRA1 TBK1 ASAH1 DISC2 ATN1 RRM2B SNCA VCP
Nausea
Genes 59
FSHR NAGS SLC7A7 KCNJ5 ALDOB GLA SAA1 SNCA CYP11B1 SDHAF2 SERPING1 CYP11B2 FSHR VPS13C TYMP LPL UCHL1 KCNA1 MGME1 CFI ETFA PARK7 SLC25A11 ESR1 CD46 TNF KIF1B MAX VHL TP53 ETFDH LRRK2 APC PRKN RET SLC1A3 INHBA EDNRA HMBS SDHC FH DNAJC6 PINK1 TMEM127 PODXL HTRA2 ETFB HELLPAR SDHA SDHD MGME1 CFH DLST ALDOB MDH2 SDHB CACNA1D RRM2B POLG
Dysphagia
Genes 470
TIMM8A SIK1 CACNA1A ND5 PLAA GMPPA RNASEH1 ALS2 CYP27A1 ATXN3 DNAJC13 OPA1 QDPR MYPN CHRNE KLHL40 ADH1C TYMP MSX1 NEK1 MPZ TAF1 FUS LMNB1 PLEC KIT SCN3A ATXN8OS SLC52A3 SOD1 SNCA COLQ IRF2BPL PIGA MYO9A SCN4A SLC18A3 LAMA2 GBA NGLY1 POLG TBCD COL7A1 SPG7 ND2 DKK1 CRYAB CACNA1G C9ORF72 RRM2B NPC2 SURF1 SDHB GBA SPG7 SELENON CYP7B1 LINGO1 TOP3A NRXN1 KAT6B PUF60 UBTF NDUFA9 UBB NECTIN1 COL7A1 BRAF LMOD3 NDUFS2 COQ2 MYH7 ASAH1 PLEC ATXN3 SNCAIP NEB REPS1 RAI1 ADAR RLIM RARS1 MYO9A SYT14 NDUFS1 FXN SLC25A22 ITGB4 SDHC VAMP1 PSEN1 ASCC1 ARHGAP29 DLX4 DDHD2 ALDH18A1 MMP1 LAMB2 MYH8 SLC5A7 NONO PYROXD1 SKI SACS ASPA POLG TRAPPC12 TWNK SPECC1L TPM2 IDH1 GNS MATR3 SERPING1 MAPT CHMP2B PRDM16 GNAQ APP GEMIN4 ERLIN2 SLC52A3 C19ORF12 ND4 NGLY1 CHRND STUB1 POLG CCR6 UBQLN2 MED17 GABRD B4GALNT1 NR4A2 CARMIL2 CAV1 SDHB CHD7 SEMA3E IRF5 NEUROD2 TK2 CACNA1G POLG MECR FARS2 SETX VAPB PANK2 GBA NDUFB8 CHAT TK2 ATP7B CARS2 KCNC3 NDUFA6 VAMP1 KLHL7 PNKD ACTA1 CCN2 VAMP1 ADNP HPCA TBP SYNJ1 TTBK2 MATR3 ATXN1 DLG1 KIT MAPT PSAP TPM3 SLC25A1 SLC5A7 BMP4 PFN1 NOTCH3 REEP1 ATXN8 KIT MYOT SCN4A PLP1 NDUFS3 KIAA0319L FTL SLC52A2 CHCHD10 SLC6A9 DYSF POLR3A SDHD ATP1A3 CNTNAP1 TIMM8A POLR3A NOP56 FBXO7 PDGFRA KCNK9 SCN4A SYT2 PANK2 RRM2B RRM2B PLAA PRPS1 ERLIN2 SLC9A6 SDHA EIF4G1 POLG DNAJB6 CHRNE TPM2 LMNB1 EBF3 VPS35 MAP2K2 SPG21 TUBB4A COL7A1 ATP6 CDC73 NECTIN1 TP63 SLC52A2 XRCC1 NEFH ATXN2 COL7A1 MID1 NUP62 FRG1 HOXB1 SDHC ZFYVE26 PRPH SON REEP1 TRNW ND6 TBP SYT14 SQSTM1 PMP22 TRNV OPTN PLA2G6 SPG7 PRKCG RERE NDUFAF3 DNAJB6 PLA2G6 KCND3 GDAP2 GBA HLA-B SLC52A3 IRX5 TARDBP ATN1 IDH2 AGRN TWNK PTS ACTG2 POLR3B PRKRA PEX16 ATXN7 PANK2 SCARB2 GLUD2 PTS GCH1 LRRK2 SQSTM1 MACF1 DMPK PDE8B MAPT ACTB MAPT HPRT1 PCNA CHRND IRF5 CTNS TARDBP ANKRD11 HLA-DRB1 ALS2 PANK2 COQ4 FBXL4 NPC1 FLCN CDH1 ATXN3 SNCA GRHL2 SMC1A SCN4A VARS1 ACTA1 SLC25A4 LBR MYORG GRIN2D DNM1L HLA-DRB1 ATP6 MSX1 WFS1 CCR6 KLHL41 PIK3R5 SLC19A3 ACTA1 HTT MAPT ATXN10 POLG GRHL3 ATXN8 TAF1 TPM3 ACTA1 SETX HGSNAT SETBP1 ECM1 NCAPG2 COL7A1 MFF RNASEH1 IRF6 ATP13A2 ATP1A3 COLQ POLR3A KBTBD13 ACTA1 CLCN1 EPRS1 CAVIN1 KIF5A FMR1 DGUOK ATP7A ATP1A3 TUBB4A LIFR TK2 RYR1 KY GBA2 SNAP25 ND3 POLG2 SDHC ATXN8OS TGM6 GUCY1A1 PLXND1 LRP12 SPART VCP SLC9A6 AFG3L2 ARX PDP1 NEB TAF1 PRNP SDHB NF1 MAPT EXOSC9 ALS2 DGUOK ATXN3 DCTN1 GRM1 MYOT NDUFAF2 AFG3L2 STUB1 GNAO1 MEGF10 TPM3 SPG11 CHAT RHBDF2 CAV1 VAC14 DAB1 CHCHD10 ATXN1 POLR3B CACNA1A NUP62 ATXN7 FTL TRIP4 KLHL41 TRNL1 MECP2 KLHL40 SPG21 ND1 PABPN1 KMT2A ACOX1 TBK1 PIGN IKZF1 CCN2 VPS13A CDC73 ATXN8OS NEB IRF6 SCO2 ATXN2 PRKRA TP63 MGME1 GIGYF2 ALS2 TANGO2 ADD3 AR TRNK FLAD1 COL13A1 KCNK9 CHMP1A VAMP1 ERLIN2 TPM3 REV3L NOP56 FA2H QDPR CNTNAP2 KLHL41 YARS2 CHRNA1 GFPT1 FERMT1 DDHD2 KCNAB2 NEB TBC1D23 MYMK GBA MMP1 ADCY6 TBK1 GJB1 CHRNA1 RRM2B TUBB6 SNCA
Lymphoma
Genes 133
ATM KRAS CD19 IGH DDX41 BCL10 BIRC3 FOXP1 MS4A1 TP63 RAG1 LIG4 NFKB2 MSH6 TERC RECQL4 NTHL1 WIPF1 CTC1 LYST NOP10 RASGRP1 TNFRSF1B XRCC4 PRKCD NHP2 MAGT1 TNFRSF13B IGH RMRP RUNX1 CTLA4 DCLRE1C FAS ICOS RNF43 NSUN2 XIAP IL7R CASP10 BCL6 CDKN2A ATM IL2RG RTEL1 PARN NBN KIT TNFRSF13C TCF4 ICOS TNFSF12 CHEK2 USB1 CD19 CR2 NRAS MSH2 WAS BCL10 CASP10 MYD88 COL14A1 PRKCD TNFRSF13B MYC MDM2 SH2D1A CCND1 BCL10 CFTR CD27 PGM3 TCF4 CHD7 IGH LIG4 BLM BCL2 TET2 HLA-DRB1 PRSS1 NPM1 KIF11 ITK WRAP53 RAD54B TINF2 FAS DKC1 APC CD81 LIG4 BLM CD28 DKC1 AAGAB RAG2 TNFRSF1B MLH1 TNFRSF13C DNASE1L3 NFKB1 PMS2 ASXL1 IL2RG PRF1 PTEN MALT1 RAD54L CTLA4 CD28 PNP SRSF2 TNFSF12 STAT3 POLE ADA CR2 ADA FASLG PIK3R1 TP53 CTRC ZAP70 MYD88 RB1 RMRP SPINK1 TERT KLHDC8B NBN RHOH