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Report for Mutation T102C

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Role of the Serotoninergic System in Impulse Control Disorders in Parkinson's Disease

Impulse control disorders are frequent and troublesome in patients with Parkinson's disease. However, the cerebral functional alterations related to impulse control disorders in Parkinson's disease are poorly understood and may involve the serotoninergic system besides alterations in the dopaminergic system. The primary objective of this study is to investigate the cerebral functional alterations in the serotoninergic system in patients with Parkinson's disease and impulse control disorders using Positron Emission Tomography with highly specific radiotracers of serotonin transporter (SERT) using [11 Carbon]-3-amino-4-(2-dimethylaminomethylphenylsulfanyl)-benzonitrile ([11C]-DASB) and of serotonin 5-Hydroxytryptamine 2A (5-HT2A) receptor using [18 Fluorine]-altanserin ([18F]-altanserin), in comparison to patients with Parkinson's disease without impulse control disorders and healthy volunteers.

NCT03970239 Parkinson Disease Impulse Control Disorders Drug: Positron Emission Tomography using [11 Carbon]-3-amino-4-(2-dimethylaminomethylphenylsulfanyl)-benzonitrile ([11C]-DASB) and [18 Fluorine]-altanserin ([18F]-altanserin) Drug: Positron Emission Tomography using [18 Fluorine]-altanserin ([18F]-altanserin)
MeSH:Parkinson Disease Disease Disruptive, Impulse Control, and Conduct Disorders

Polymorphism rs6313 (or T102C) of the serotonin 5-Hydroxytryptamine 2A (5-HT2A) receptor. --- T102C ---

Polymorphism rs6313 also called T102C or C102T is a gene variation, a single nucleotide polymorphism (SNP) in the human Hydroxytryptamine Receptor 2A (HTR2A) gene that codes for the 5-HT2A receptor. --- T102C ---

Primary Outcomes

Description: Between-group difference of binding potential of [18 Fluorine]-altanserin ([18F]-altanserin) and [11 Carbon]-3-amino-4-(2-dimethylaminomethylphenylsulfanyl)-benzonitrile ([11C]-DASB) ([11C]-DASB)

Measure: Difference in binding potential of [18 Fluorine]-altanserin ([18F]-altanserin) and [11 Carbon]-3-amino-4-(2-dimethylaminomethylphenylsulfanyl)-benzonitrile ([11C]-DASB) ([11C]-DASB)

Time: 2-3 days

Secondary Outcomes

Description: The Ardouin Scale of Behavior in Parkinson's Disease (ASBPD) evaluates hypo- and hyperdopaminergic behaviors and can also detect and quantify neuropsychiatric fluctuations by evaluating OFF-drug dysphoria and ON-drug euphoria. It is based on a semi-structured interview that encompasses the whole spectrum of behavioral spectrum from hypo-to hyperdopaminergic syndromes as well as non-motor fluctuations. The scale consists of 18 items addressing non-motor symptoms, grouped in four parts: general psychological evaluation, apathy, non-motor fluctuations and hyperdopaminergic behaviors. The rating in five points (0-4 from absent to severe) is carried out during a semi-structured interview. Open-ended questions introduce each item, allowing patients to express themselves as freely as possible. Close-ended questions permit the rating of severity and intensity.

Measure: Ardouin Scale of Behavior in Parkinson's Disease (ASBPD)

Time: 2-3 days

Description: The Questionnaire For Impulsive-Compulsive Disorders In Parkinson's Disease-Rating Scale (QUIP-RS) is designed to measure severity of symptoms and support a diagnosis of impulse control disorders and related disorders in Parkinson's Disease (PD). The QUIP-RS is administered with an instruction sheet that provides examples of the behaviors being assessed and a brief description of the categories for frequency (never [0] = not at all, rarely [1] = infrequently or 1 day/week, etc.). Scores for each Impulsive Compulsive Disorder (ICD) and related disorder range from 0 to 16, with a higher score indicating greater severity (frequency) of symptoms. The total QUIP-RS score for all ICDs and related disorders combined ranges from 0 to 112.

Measure: Questionnaire For Impulsive-Compulsive Disorders In Parkinson's Disease-Rating Scale (QUIP-RS)

Time: 2-3 days

Description: The full version of the UPPS-P Scale is composed of 59 items, with 10-14 items per scale. Items are scored on a 4-point scale: Agree Strongly = 1 Agree Some = 2 Disagree Some = 3 Disagree Strongly = 4 Higher values translate into higher levels of impulsivity. The results allow assessement of the patient according to five impulsive personality traits: Negative urgency: tendency to act rashly under extreme negative emotions Lack of Premeditation: tendency to act without thinking Lack of Perseverance: inability to remain focused on a task Sensation Seeking: tendency to seek out novel and thrilling experiences Positive Urgency: tendency to act rashly under extreme positive emotions

Measure: Urgency, Premeditation (lack of), Perseverance (lack of), Sensation Seeking Impulsive Behavior Scale (UPPS Impulsive Behavior Scale)

Time: 2-3 days

Description: The MDS-UPDRS is composed of four parts, namely, I: Non-motor Experiences of Daily Living; II: Motor Experiences of Daily Living; III: Motor Examination; IV: Motor Complications and includes 65 items. Each question has five responses that are linked to commonly accepted clinical terms: 0 = normal, 1 = slight, 2 = mild, 3 = moderate, and 4 = severe. The overall progression of disability is given a score ranging from 0 = no disability 1= slight disability 2= moderate disability 3= high disability and 4= severe disability.

Measure: Movement Disorder Society (MDS) Unified Parkinson's Disease Rating Scale (MDS-UPDRS)

Time: 2-3 days

Description: The Beck Depression Inventory (BDI-II) is used to measure the severity of depression. It contains 21 questions, each answer being scored on a scale value of 0 to 3. Higher total scores indicate more severe depressive symptoms: 0-13: minimal depression 14-19: mild depression 20-28: moderate depression 29-63: severe depression.

Measure: Beck Depression Inventory II (BDI-II)

Time: 2-3 days

Description: For this scale, patients are asked to answer 14 questions, each of which is scored on a 4-point scale of 0-3, and apathy is rated as more severe as the total score (0-42) increases.

Measure: Starkstein Apathy Scale (SAS)

Time: 2-3 days

Description: The State-Trait Anxiety Inventory measures anxiety by assessing someone's state (S) and trait (T) anxiety at the same time. Its combined format consists of 40 questions. The S-Anxiety scale (STAI Form Y-1) consists of twenty statements that evaluate how the respondent feels "right now, at this moment". The T- Anxiety scale (STAI Form Y-2) consists of twenty statements that evaluate how the respondent feels "generally". In responding to the S-Anxiety scale, the subjects choose the number that best describes the intensity of their feelings: (1) not at all, (2) somewhat, (3) moderately, (4) very much so. In responding to the T-Anxiety scale, subjects rate the frequency of their feelings on the following four-point scale: (1) almost never, (2) sometimes, (3) often, (4) almost always. Each STAI item is given a weighted score of 1 to 4. Scores for both the S-Anxiety and the T-Anxiety scales can vary from a minimum of 20 to a maximum of 80 with higher scores correlating to higher anxiety.

Measure: State-Trait Anxiety Inventory -Y (STAI-Y)

Time: 2-3 days

Description: The SHAPS measures the subject's ability to experience pleasure (hedonic tone) and its absence (anhedonia). It consists of 14 items with 4 possible responses: Definitely Agree, Agree, Disagree, Definitely Disagree. A score from 0- 14 is possible (1 point for each response in the Disagree category and 0 points for each response in the Agree category). The higher the score the less the subject is able to experience pleasure.

Measure: Snaith-Hamilton Pleasure Scale (SHAPS)

Time: 2-3 days

Description: Measure specifically designed to capture the anticipatory and consummatory facets of pleasure. It consists of 10 questions assessing anticipatory pleasure (TEPS-ANT) and 8 questions assessing consummatory pleasure (TEPS-CON) using a 6-point fixed choice response format ranging from 1 = very false for me to 6 = very true for me. The higher the score for each section, the more the subject experiences anticipatory pleasure and consummatory pleasure, respectively.

Measure: Temporal Experience of Pleasure Scale (TEPS)

Time: 2-3 days

Description: Stop Signal Task

Measure: Stop Signal Reaction Time (SSRT)

Time: 2-3 days

Description: 27-item Monetary Choice Questionnaire: for each question, patients will choose between two different monetary values (a high monitary value versus a low monitary value) in order to determine the patient's level of impulsiveness.

Measure: Discounting rate

Time: 2-3 days

Description: 4 Choice Serial Reaction Time Task

Measure: Proportion of premature responses

Time: 2-3 days

Description: Polymorphism rs6313 also called T102C or C102T is a gene variation, a single nucleotide polymorphism (SNP) in the human Hydroxytryptamine Receptor 2A (HTR2A) gene that codes for the 5-HT2A receptor. The SNP is a synonymous substitution located in exon 1 of the gene where it is involved in coding the 34th amino acid as serine.

Measure: Polymorphism rs6313 (or T102C) of the serotonin 5-Hydroxytryptamine 2A (5-HT2A) receptor

Time: 2-3 days

Description: Polymorphism 5-HydroxyTryptamine (serotonin) Transporter Gene-Linked Polymorphic Region (5-HTTLPR)/rs25531 of the serotonin transporter (SERT)

Measure: Polymorphism 5-HydroxyTryptamine (serotonin) Transporter Gene-Linked Polymorphic Region (5-HTTLPR)/rs25531 of the serotonin transporter (SERT)

Time: 2-3 days

Description: Anatomical imaging using a T1-weighted Magnetization-Prepared RApid Gradient-Echo (T1_MPRAGE) sequence for morphometry.

Measure: Magnetic Resonance Imaging metrics: anatomical imaging

Time: 2-3 days

Description: Diffusion weighted imaging for Diffusion Tensor Imaging (DTI) and tractography

Measure: Magnetic Resonance Imaging metrics: Diffusion Weighted imaging

Time: 2-3 days

Description: Resting State Functional Imaging for functional connectivity

Measure: Magnetic Resonance Imaging metrics: Resting State Functional Imaging

Time: 2-3 days


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