SNPMiner Trials (Home Page)
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 monthsSecondary Outcomes
Measure: Number of relapse episodes (number per year) Time: 24 monthsMeasure: 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 monthsDescription: qualitative variable: 0, 1, or >1
Measure: Number of new T1 lesions taking on Gadolinium highlighting Time: 12 monthsDescription: qualitative variable: 0, 1, or >1
Measure: Number of new T1 lesions taking on Gadolinium highlighting Time: 24 monthsMeasure: 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 monthsDescription: Exact number (semiautomatic measure)
Measure: Total number of Gadolinium highlighted lesions on T1 images Time: 12 monthsDescription: Exact number (semiautomatic measure)
Measure: Total number of Gadolinium highlighted lesions on T1 images Time: 24 monthsDescription: mm^3
Measure: Normalized cerebral volume (SIENAX) obtained from a T13D sequence Time: 3 monthsDescription: mm^3
Measure: Normalized cerebral volume (SIENAX) obtained from a T13D sequence Time: 12 monthsDescription: mm^3
Measure: Normalized cerebral volume (SIENAX) obtained from a T13D sequence Time: 24 monthsMeasure: 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: baselineDescription: 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 monthsDescription: 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 monthsDescription: 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 monthsDescription: 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 monthsDescription: 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 monthsMeasure: 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 monthsOther Outcomes
Measure: DNA sample (blood sample) for biobank Time: baselineMeasure: 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-treatmentDescription: • 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-treatmentDescription: • 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 weeksDescription: • 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 weeksSecondary Outcomes
Description: • Anxiety Sensitivity Index (ASI-3)
Measure: Change in anxiety: Time: Baseline and at 14 weeksDescription: • The Beck Depression Inventory (BDI-II)
Measure: Change in mood from baseline: Time: Baseline, at 14 weeks and at 6 months post-treatmentDescription: • Positive and Negative Affect trait (PANAS)
Measure: Change in positive and negative affect: Time: Baseline and at 14 weeksDescription: • Perceived Stress Scale (PSS)
Measure: Impact of current life events: Time: Baseline, 14 weeks and at 6 months post-treatmentDescription: • Childhood Trauma Questionnaire (CTQ)
Measure: Impact of past stressful life events: Time: BaselineDescription: • Conners' Continuous Performance Test II : CPT-II
Measure: Change in attentional domains: Time: Baseline and at 14 weeksDescription: • Wisconsin Card Sorting Test: WCST
Measure: Change in executive Functioning/Cognitive flexibility: Time: Baseline and at 14 weeksDescription: • Autobiographic Memory Task: 10 selected emotions (5 negative and 5 positive).
Measure: Autobiographical memories: Time: BaselineDescription: • Phonetic Fluency: PMR (Spanish version of the FAS)
Measure: Change in verbal fluency: Time: Baseline, 14 weeks and at 6 months post-treatmentDescription: • 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: BaselineDescription: • 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-treatmentDescription: • Multicultural Quality of Life Index (MQLI).
Measure: Change in Quality of Life: Time: Baseline, 14 weeks and at 6 months post-treatmentDescription: • 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-treatmentDescription: • 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-treatmentDescription: • Credibility Expectancy Questionnaire (CEQ).
Measure: Treatment expectancy: Time: BaselineDescription: • Structural acquisition: T13D
Measure: Changes in structural brain regions: Time: Baseline and at 14 weeks