SNPMiner Trials by Shray Alag


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Report for Mutation T13D

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 Multicentric, Randomized, Double-blind Versus Placebo Study Evaluating the Efficacy of Treatment With Cholecalciferol (Vitamin D3) for Delaying the Diagnosis of Multiple Sclerosis (MS) After a Clinically Isolated Syndrome (CIS). Comparison of Conversion Rates After 2 Years.

The main objective of this study is to evaluate the efficacy and tolerance of 2 years of treatment with cholecalciferol (vitamin D3) in patients with a clinically isolated syndrome at high risk for MS (CIS).

NCT01817166 Multiple Sclerosis Drug: Vitamin D Drug: Placebo Other: Imaging Biological: Lumbar puncture Biological: Blood sampling Biological: Urine samples
MeSH: Multiple Sclerosis Sclerosis

Normalized cerebral volume (SIENAX) obtained from a T13D sequence. --- T13D ---

Primary Outcomes

Description: Conversion to MS according to criteria described by McDonald (Polman et al 2005)

Measure: Conversion to MS yes/no

Time: 24 months

Secondary Outcomes

Measure: Number of relapse episodes (number per year)

Time: 24 months

Measure: number of new brain lesions found in FLAIR MRI or medullary lesions found in T2 MRI

Time: 3 months

Measure: number of new brain lesions found in FLAIR MRI or medullary lesions found in T2 MRI

Time: 12 months

Measure: number of new brain lesions found in FLAIR MRI or medullary lesions found in T2 MRI

Time: 24 months

Description: qualitative variable: 0, 1, or >1

Measure: Number of new T1 lesions taking on Gadolinium highlighting

Time: 3 months

Description: qualitative variable: 0, 1, or >1

Measure: Number of new T1 lesions taking on Gadolinium highlighting

Time: 12 months

Description: qualitative variable: 0, 1, or >1

Measure: Number of new T1 lesions taking on Gadolinium highlighting

Time: 24 months

Measure: Number of hyposignal T1 lesions (black holes)

Time: 3 months

Measure: Number of hyposignal T1 lesions (black holes)

Time: 12 months

Measure: Number of hyposignal T1 lesions (black holes)

Time: 24 months

Measure: Lesional burden in mm^3 for each cerebral MRI

Time: 3 months

Measure: Lesional burden in mm^3 for each cerebral MRI

Time: 12 months

Measure: Lesional burden in mm^3 for each cerebral MRI

Time: 24 months

Description: Exact number (semiautomatic measure)

Measure: Total number of Gadolinium highlighted lesions on T1 images

Time: 3 months

Description: Exact number (semiautomatic measure)

Measure: Total number of Gadolinium highlighted lesions on T1 images

Time: 12 months

Description: Exact number (semiautomatic measure)

Measure: Total number of Gadolinium highlighted lesions on T1 images

Time: 24 months

Description: mm^3

Measure: Normalized cerebral volume (SIENAX) obtained from a T13D sequence

Time: 3 months

Description: mm^3

Measure: Normalized cerebral volume (SIENAX) obtained from a T13D sequence

Time: 12 months

Description: mm^3

Measure: Normalized cerebral volume (SIENAX) obtained from a T13D sequence

Time: 24 months

Measure: Change in global cerebral volume (mm^3)

Time: baseline versus 24 months

Measure: EDSS score, including all subscores

Time: baseline

Measure: EDSS score, including all subscores

Time: 3 months

Measure: EDSS score, including all subscores

Time: 12 months

Measure: EDSS score, including all subscores

Time: 24 months

Measure: EDSS score, including all subscores

Time: after second MS episode (1st relapse)(maximum 24 months)

Measure: score for the PASAT 3 seconds section of the MSFC score

Time: baseline

Measure: score for the PASAT 3 seconds section of the MSFC score

Time: 3 months

Measure: score for the PASAT 3 seconds section of the MSFC score

Time: 12 months

Measure: score for the PASAT 3 seconds section of the MSFC score

Time: 24 months

Measure: score for the PASAT 3 seconds section of the MSFC score

Time: after second MS episode (1st relapse)(maximum 24 months)

Measure: EQ5D questionnaire

Time: baseline

Measure: EQ5D questionnaire

Time: 3 months

Measure: EQ5D questionnaire

Time: 12 months

Measure: EQ5D questionnaire

Time: 24 months

Measure: SF36 questionnaire

Time: baseline

Measure: SF36 questionnaire

Time: 3 months

Measure: SF36 questionnaire

Time: 12 months

Measure: SF36 questionnaire

Time: 24 months

Measure: FSMC fatigue scale

Time: baseline

Measure: FSMC fatigue scale

Time: 3 months

Measure: FSMC fatigue scale

Time: 12 months

Measure: FSMC fatigue scale

Time: 24 months

Measure: TLS-QOL10 questionnaire

Time: baseline

Measure: TLS-QOL10 questionnaire

Time: 3 months

Measure: TLS-QOL10 questionnaire

Time: 12 months

Measure: TLS-QOL10 questionnaire

Time: 24 months

Measure: TLS-Coping10 questionnaire

Time: baseline

Measure: TLS-Coping10 questionnaire

Time: 3 months

Measure: TLS-Coping10 questionnaire

Time: 12 months

Measure: TLS-Coping10 questionnaire

Time: 24 months

Measure: HADS questionnaire

Time: baseline

Measure: HADS questionnaire

Time: 3 months

Measure: HADS questionnaire

Time: 12 months

Measure: HADS questionnaire

Time: 24 months

Description: Presence/absence of adverse events the severity of which will be graded according to Common Terminology Criteria for Adverse Events (CTCAE) version 3. Grades I, II, III, IV, V.

Measure: Presence/absence of adverse events

Time: baseline

Description: Presence/absence of adverse events the severity of which will be graded according to Common Terminology Criteria for Adverse Events (CTCAE) version 3. Grades I, II, III, IV, V.

Measure: Presence/absence of adverse events

Time: 3 months

Description: Presence/absence of adverse events the severity of which will be graded according to Common Terminology Criteria for Adverse Events (CTCAE) version 3. Grades I, II, III, IV, V.

Measure: Presence/absence of adverse events

Time: 6 months

Description: Presence/absence of adverse events the severity of which will be graded according to Common Terminology Criteria for Adverse Events (CTCAE) version 3. Grades I, II, III, IV, V.

Measure: Presence/absence of adverse events

Time: 12 months

Description: Presence/absence of adverse events the severity of which will be graded according to Common Terminology Criteria for Adverse Events (CTCAE) version 3. Grades I, II, III, IV, V.

Measure: Presence/absence of adverse events

Time: 18 months

Description: Presence/absence of adverse events the severity of which will be graded according to Common Terminology Criteria for Adverse Events (CTCAE) version 3. Grades I, II, III, IV, V.

Measure: Presence/absence of adverse events

Time: 24 months

Measure: 25(OH)D2+D3 serum level (nmol/l)

Time: baseline

Measure: 25(OH)D2+D3 serum level (nmol/l)

Time: 3 months

Measure: 25(OH)D2+D3 serum level (nmol/l)

Time: 6 months

Measure: 25(OH)D2+D3 serum level (nmol/l)

Time: 12 months

Measure: 25(OH)D2+D3 serum level (nmol/l)

Time: 18 months

Measure: 25(OH)D2+D3 serum level (nmol/l)

Time: 24 months

Measure: 25(OH)D2+D3 serum level (nmol/l)

Time: upon conversion to MS (maximum 24 months)

Measure: Calciuria/creatinuria

Time: baseline

Measure: Calciuria/creatinuria

Time: 3 months

Measure: Calciuria/creatinuria

Time: 6 months

Measure: Calciuria/creatinuria

Time: 12 months

Measure: Calciuria/creatinuria

Time: 18 months

Measure: Calciuria/creatinuria

Time: 24 months

Measure: Calciuria/creatinuria

Time: upon conversion to MS (maximum 24 months)

Description: The number of days that pass from the beginning of treatment to conversion to MS according to McDonald 2005 criteria (Polman et al 2005)

Measure: Delay until conversion to MS

Time: 24 months

Other Outcomes

Measure: DNA sample (blood sample) for biobank

Time: baseline

Measure: Hemogram

Time: baseline

Measure: Hemogram

Time: 3 months

Measure: Hemogram

Time: 6 months

Measure: Hemogram

Time: 12 months

Measure: Hemogram

Time: 18 months

Measure: Hemogram

Time: 24 months

Measure: Hemogram

Time: upon conversion to MS (maximum 24 months)

Measure: alanine amino transferase serum levels

Time: baseline

Measure: alanine amino transferase serum levels

Time: 3 months

Measure: alanine amino transferase serum levels

Time: 6 months

Measure: alanine amino transferase serum levels

Time: 12 months

Measure: alanine amino transferase serum levels

Time: 18 months

Measure: alanine amino transferase serum levels

Time: 24 months

Measure: alanine amino transferase serum levels

Time: upon conversion to MS (maximum 24 months)

Measure: aspartate aminotransferase serum levels

Time: baseline

Measure: aspartate aminotransferase serum levels

Time: 3 months

Measure: aspartate aminotransferase serum levels

Time: 6 months

Measure: aspartate aminotransferase serum levels

Time: 12 months

Measure: aspartate aminotransferase serum levels

Time: 18 months

Measure: aspartate aminotransferase serum levels

Time: 24 months

Measure: aspartate aminotransferase serum levels

Time: upon conversion to MS (maximum 24 months)

Measure: alkaline phosphatase serum levels

Time: baseline

Measure: alkaline phosphatase serum levels

Time: 3 months

Measure: alkaline phosphatase serum levels

Time: 6 months

Measure: alkaline phosphatase serum levels

Time: 12 months

Measure: alkaline phosphatase serum levels

Time: 18 months

Measure: alkaline phosphatase serum levels

Time: 24 months

Measure: alkaline phosphatase serum levels

Time: upon conversion to MS (maximum 24 months)

Measure: serum calcium levels

Time: baseline

Measure: serum calcium levels

Time: 3 months

Measure: serum calcium levels

Time: 6 months

Measure: serum calcium levels

Time: 12 months

Measure: serum calcium levels

Time: 18 months

Measure: serum calcium levels

Time: 24 months

Measure: serum calcium levels

Time: upon conversion to MS (maximum 24 months)

Measure: serum creatinine levels

Time: baseline

Measure: serum creatinine levels

Time: 3 months

Measure: serum creatinine levels

Time: 6 months

Measure: serum creatinine levels

Time: 12 months

Measure: serum creatinine levels

Time: 18 months

Measure: serum creatinine levels

Time: 24 months

Measure: serum creatinine levels

Time: upon conversion to MS (maximum 24 months)

Measure: serum albumin levels

Time: baseline

Measure: serum albumin levels

Time: 3 months

Measure: serum albumin levels

Time: 6 months

Measure: serum albumin levels

Time: 12 months

Measure: serum albumin levels

Time: 18 months

Measure: serum albumin levels

Time: 24 months

Measure: serum albumin levels

Time: upon conversion to MS (maximum 24 months)

Measure: serum urea levels

Time: baseline

Measure: serum urea levels

Time: 3 months

Measure: serum urea levels

Time: 6 months

Measure: serum urea levels

Time: 12 months

Measure: serum urea levels

Time: 18 months

Measure: serum urea levels

Time: 24 months

Measure: serum urea levels

Time: upon conversion to MS (maximum 24 months)

Measure: serum bilirubin levels

Time: baseline

Measure: serum bilirubin levels

Time: 3 months

Measure: serum bilirubin levels

Time: 6 months

Measure: serum bilirubin levels

Time: 12 months

Measure: serum bilirubin levels

Time: 18 months

Measure: serum bilirubin levels

Time: 24 months

Measure: serum bilirubin levels

Time: upon conversion to MS (maximum 24 months)

Measure: serum electrolyte panel

Time: baseline

Measure: serum electrolyte panel

Time: 3 months

Measure: serum electrolyte panel

Time: 6 months

Measure: serum electrolyte panel

Time: 12 months

Measure: serum electrolyte panel

Time: 18 months

Measure: serum electrolyte panel

Time: 24 months

Measure: serum electrolyte panel

Time: upon conversion to MS (maximum 24 months)

2 Mindfulness-Based Cognitive Therapy: Efficacy and fMRI-based Response Predictors in a Group of OCD Patients Non-responders to CBT

Obsessive-Compulsive Disorder (OCD) patients have a response rate of 50-60% to exposure and response prevention (ERP) therapy and SSRI antidepressants. Mindfulness-Based Cognitive Therapy (MBCT) consists of training the participant to non-react to negative thoughts and emotions. Applying MBCT to OCD patients may help them behave with equanimity in response to their obsessions, and therefore acknowledge them with the same attention and intention as they admit any other disturbing thought without reacting to it. MBCT has demonstrated effectiveness in major depression, but much less attention has been given to MBCT in OCD. ERP and MBCT, although sharing aspects like exposure, are based on different theoretic and therapeutic factors. EPR is based on a direct anxiety habituation process whereas MBCT trains a holistic manner of becoming familiarized with distressful thoughts and emotions while learning to develop a new relationship to them. Thus, MBCT may decrease anxiety indirectly through a major attention awareness and non-reactivity to thoughts and emotions. OCD is characterized by altered cortical-striatal-thalamic-cortical (CSTC) circuit and default mode network (DMN) connectivity when performing different tasks and during the resting state. It has been establish that the ventral CSTC circuit is mostly associated with emotional processing, while the dorsolateral aspect of the CSTC circuit is preferentially involved in cognitive processing. In this regard, we hypothesized that clinical amelioration will be accompanied by a re-establishment of functional connectivity within dorsolateral and DMN circuits, which will in turn be associated with improvement of certain neuropsychological processes. CSTC and DMN circuits have also shown to be sensitive to prolonged stress situations. Specifically, childhood trauma has been related to larger brain volumes and it has been associated with different OCD clinical subtypes. Aims: 1. To assess MBCT effectiveness in treatment non-naive OCD patients. 2. To study cognitive and neuropsychological characteristics that mediate or moderate MBCT response. 3. To examine the changes in cognitive, neuropsychological and neuroimaging patterns associated with an MBCT intervention. 4. To identify a brain biomarker for positive response to MBCT in non-naïve OCD patients. 5. To study cognitive, neuropsychological and early stress expousure mediators or moderators of functional changes in CSTC and DMN patterns in response to MBCT.

NCT03128749 Obsessive-Compulsive Disorder Behavioral: Mindfulness Based Intervention Drug: Treatment as Usual
MeSH: Compulsive Personality Disorder Obsessive-Compulsive Disorder
HPO: Obsessive-compulsive behavior

• Structural acquisition: T13D. --- T13D ---

Primary Outcomes

Description: • Clinical version of the Yale-Brown Obsessive-Compulsive Scale (Y-BOCS) the severity and the checklist.

Measure: Change in Y-BOCS:

Time: Baseline and at 14 weeks and at 6 months post-treatment

Description: • Obsessive-Compulsive Inventory-Revised (OCI-R) assessing 6 dimensions (Washing, Checking, Ordering, Obsessing, Hoarding and Neutralizing).

Measure: Change in OCI-R:

Time: Baseline, at 14 weeks and at 6 months post-treatment

Description: • Obsessive Beliefs Questionnaire-44 (OBQ-44), a measure of three OCD-related belief domains (Perfectionism/Certainty, Importance/Control of thoughts, and Responsibility/Threat estimation).

Measure: Change in OBQ-44:

Time: Baseline and at 14 weeks

Description: • Functional Magnetic Resonance Imaging: Resting state and during task performance (Autobiographical memory + N-Back) and self-reference.

Measure: Changes in functional brain circuits:

Time: Baseline and at 14 weeks

Secondary Outcomes

Description: • Anxiety Sensitivity Index (ASI-3)

Measure: Change in anxiety:

Time: Baseline and at 14 weeks

Description: • The Beck Depression Inventory (BDI-II)

Measure: Change in mood from baseline:

Time: Baseline, at 14 weeks and at 6 months post-treatment

Description: • Positive and Negative Affect trait (PANAS)

Measure: Change in positive and negative affect:

Time: Baseline and at 14 weeks

Description: • Perceived Stress Scale (PSS)

Measure: Impact of current life events:

Time: Baseline, 14 weeks and at 6 months post-treatment

Description: • Childhood Trauma Questionnaire (CTQ)

Measure: Impact of past stressful life events:

Time: Baseline

Description: • Conners' Continuous Performance Test II : CPT-II

Measure: Change in attentional domains:

Time: Baseline and at 14 weeks

Description: • Wisconsin Card Sorting Test: WCST

Measure: Change in executive Functioning/Cognitive flexibility:

Time: Baseline and at 14 weeks

Description: • Autobiographic Memory Task: 10 selected emotions (5 negative and 5 positive).

Measure: Autobiographical memories:

Time: Baseline

Description: • Phonetic Fluency: PMR (Spanish version of the FAS)

Measure: Change in verbal fluency:

Time: Baseline, 14 weeks and at 6 months post-treatment

Description: • Word Task: Assessment of language fluency and thought content using a list of 10 seed words from the Spanish adaptation of the ANEW (Affective Norms for English Words) in terms of positive and negative valance and different degrees of arousal.

Measure: Speech analysis:

Time: Baseline

Description: • ES-Questionnaire, designed by Drs. J. Andrews-Hanna and M. López-Solà (research collaborators of the project) from the USA. It is based on 23 questions that examines the thought content from the patient before, during and after the treatment.

Measure: Thought content:

Time: Baseline, each week during the treatment period (10 sessions) and post-treatment

Description: • Multicultural Quality of Life Index (MQLI).

Measure: Change in Quality of Life:

Time: Baseline, 14 weeks and at 6 months post-treatment

Description: • Mindfulness measures include: The Five Facet Mindfulness Questionnaire (FFMQ), used to measure the five constructs central to mindfulness (Observing, Describing, Acting with Awareness, Non-judgment of Inner Experience, and Non-reactivity to Inner Experience).

Measure: Change in Mindfulness variables:

Time: Baseline, 14 weeks and at 6 months post-treatment

Description: • Ruminative Responses Scale (RRS) to measure the degree and type of thought thinking.

Measure: Change in Rumination:

Time: Baseline, 14 weeks and at 6 months post-treatment

Description: • Credibility Expectancy Questionnaire (CEQ).

Measure: Treatment expectancy:

Time: Baseline

Description: • Structural acquisition: T13D

Measure: Changes in structural brain regions:

Time: Baseline and at 14 weeks


HPO Nodes


Obsessive-compulsive behavior
Genes 96
GRN GATAD2B HCN1 ARID1B GTF2I CHMP2B BAZ1B EHMT1 MLXIPL SLC35C1 CLIP2 TREM2 PAH RAD21 TOR1A AFF2 UBE3A SGCE GABRD MED12 SCN9A TBX1 MAPK1 TMEM106B STX1B ELN CLCN4 MAPT GABRG2 SGCE OCRL SLC6A4 RFC2 TKT HDC HTR2A PSEN1 PCDH19 UBE2A CLCN4 C9ORF72 NKX2-1 SCN1A HDAC4 COASY YWHAG CRKL KMT2A SCN2A GCH1 ADGRV1 TBL2 XK DPF2 TRRAP SLC45A1 GTF2IRD1 SETD5 AFF2 HDAC8 FMR1 ELN SEMA3E TLK2 PANK2 TRIO SMC3 VCP POGZ AUTS2 TCF20 HNRNPH2 BCR CHD7 DRD2 ALMS1 SETD5 TTC19 PANK2 SQSTM1 SCN1B LIMK1 DMPK SLITRK1 MED12 COASY SETD5 PPM1D FMR1 ADNP KCTD17 NIPBL ADNP SMC1A SLITRK1 TRIO