SNPMiner Trials by Shray Alag


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Report for SNP rs2832407

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 4 clinical trials

Clinical Trials


1 Topiramate Treatment of Problem Drinkers

The purpose of this study is to evaluate the safety and efficacy of topiramate in reducing drinking and heavy drinking frequency in problem drinkers. We hypothesize that at a dosage of up to 200mg/day, topiramate will be well tolerated in this patient population and that, compared to placebo treatment, topiramate will result in a greater reduction in the frequency of both drinking days and heavy drinking days.

NCT00626925 Alcohol Drinking Drug: topiramate Drug: placebo
MeSH: Alcohol Drinking

Mean Heavy Drinking Days Per Week by Medication Group and rs2832407 Genotype.

Mean Abstinent Days Per Week by Medication Group and rs2832407 Genotype.

Primary Outcomes

Description: Change in the number of heavy drinking days during treatment phase of study. Drinking data were aggregated to the weekly level. The number of days per week of heavy drinking (i.e., four or more drinks in a day for women and five or more drinks in a day for men) and of abstinence were the primary outcomes.

Measure: Mean Heavy Drinking Days Per Week by Medication Group

Time: 12 weeks (from initiation to end of treatment)

Secondary Outcomes

Measure: Mean Abstinent Days Per Week by Medication Group

Time: 12 weeks

Measure: Mean Daily Alcohol Consumption

Time: 12 weeks (from initiation to end of treatment); 3- and 6-months post-treatment

Measure: Mean Heavy Drinking Days Per Week by Medication Group and rs2832407 Genotype

Time: 12 weeks

Measure: Mean Abstinent Days Per Week by Medication Group and rs2832407 Genotype

Time: 12 weeks

Description: The Short Inventory of Problems (SIP). The SIP, a 15-item instrument, yields a total score that ranges from 0 to 45, higher score indicating higher levels of drinking problems. The SIP was derived from the Drinker Inventory of Consequences (DrInC), which was developed for use in Project MATCH (Miller and Tonigan 1995). We (Feinn et al. 2003) have found that, like the DrInC, the SIP measures a single factor of alcohol-related problems. Given that it is substantially shorter than the DrInC, we will use the SIP as a measure of alcohol-related consequences.

Measure: Severity of Alcohol-related Problems at End of Treatment

Time: 12 weeks (from intiation to end of treatment)

Description: Gamma-glutamyl transferase (GGT) is a liver enzyme biochemical measure used to detect liver health and function and alcohol consumption. GGT is a very sensitive measure than can change very quickly compared to other biochemical markers.

Measure: Gamma-glutamyl Transferase (GGT) at Midpoint

Time: 6 weeks (from initiation to midpoint)

Description: Gamma-glutamyl transferase (GGT) is a liver enzyme biochemical measure used to detect liver health and function and alcohol consumption. GGT is a very sensitive measure than can change very quickly compared to other biochemical markers.

Measure: Gamma-glutamyl Transferase (GGT) at End of Treatment

Time: 12 weeks (from initiation to end of treatment)

2 A Randomized, Double-blind Placebo-Controlled Pharmacogenetic Study of Topiramate in European-American Heavy Drinkers

The purpose of this study is to advance the effort to develop personalized pharmacotherapy for alcohol use disorders (AUDs). The investigators propose to conduct a 12-week, prospective, randomized clinical trial of the moderating effect of rs2832407 on the efficacy of TOP in reducing heavy drinking (HD) in 200 individuals of European descent with DSM-5 AUD. The investigators will stratify the randomization on genotype and oversample rs2832407*C homozygotes, the most TOP-responsive genotype, to ensure comparable numbers of patients in the four medication x genotype groups. The investigators will use daily data collection to examine changes in relevant process variables (e.g., alcohol expectancies) and their interaction with genotype and medication group as predictors of HD. The proposed study is innovative in that it will be the first prospective test of a pharmacogenetic hypothesis involving TOP; it will use daily reports to examine expectancies and how they interact with medication and genotype to predict HD; and it will enroll DSM-5 AUD patients whose goal is either to reduce or stop drinking, which will increase the study's external validity.

NCT02371889 Alcoholism Drug: Topiramate Behavioral: Medical Management Drug: Inactive Placebo
MeSH: Alcoholism Alcoholic Intoxication

The investigators propose to conduct a 12-week, prospective, randomized clinical trial of the moderating effect of rs2832407 on the efficacy of TOP in reducing heavy drinking (HD) in 200 individuals of European descent with DSM-5 AUD.

The investigators will stratify the randomization on genotype and oversample rs2832407*C homozygotes, the most TOP-responsive genotype, to ensure comparable numbers of patients in the four medication x genotype groups.

12. Judged by the principal investigator or his designee to be an unsuitable candidate for receipt of an investigational drug Alcoholism Alcoholism Alcoholic Intoxication This is a 12-week, prospective, randomized clinical trial of the moderating effect of rs2832407 on the efficacy of topiramate in reducing HD in 200 individuals of European descent with DSM-5 AUD.

The investigators will stratify the randomization on genotype and oversample rs2832407*C homozygotes, the most topiramate-responsive genotype, to ensure comparable numbers of subjects in the four medication x genotype groups.

The investigators will select subjects based on their genotype to ensure comparable numbers of individuals who are rs2832407*C-allele homozygotes and A-allele carriers.

Primary Outcomes

Description: The four medication by genotype groups will be compared on weekly number of Heavy Drinking Days.

Measure: Frequency of Heavy Drinking Days Per Week by Medication and Genotype Group (timeline follow back calendar).

Time: 12 weeks

Secondary Outcomes

Description: Daily Interactive Voice Response (IVR) to Alcohol Expectancies questions compared to reported daily drinking.

Measure: Frequency of positive expectancies regarding alcohols positive effects and level of confidence in resisting heavy drinking by Medication and Genotype Group (daily questionnaire).

Time: 12 weeks

Other Outcomes

Description: Frequency, type, and severity of adverse effects will be assessed at each study visit to determine the safety of topiramate. These outcomes will be compared for patients receiving TOP or placebo using Chi-squared analysis.

Measure: Severity of Adverse Effects in Study Participants (Questionnaire)

Time: 12 weeks

Description: Demonstrate neuromodulatory effects of a GABA/glutamate modulator, topiramate, on RB and alcohol cue reactivity

Measure: Conduct an optional sub-study of 100 of the randomized subjects, to examine the effects of topiramate on resting baseline (RB) cerebral blood flow and alcohol cue reactivity using functional magnetic resonance imaging (fMRI)andomized subjects.

Time: 8 weeks

3 Defining the Clinical Role of Topiramate in the Treatment of Alcohol Dependence in Australia

To compare the clinical effectiveness, tolerability, and cost-effectiveness of topiramate to active control (naltrexone) on treatment outcomes for alcohol dependence in a double-blind randomised controlled trial.

NCT03479086 Alcohol Dependence Drug: Topiramate Drug: Naltrexone
MeSH: Alcoholism

Investigators hypothesise that topiramate treated patients will be better able to achieve a reduction in heavy drinking and predict that, based on prior research, that the effects would be moderated by a single nucleotide polymorphism (rs2832407) in GRIK1.

Primary Outcomes

Description: Corroborated with Phosphatidylethanol (PEth) levels

Measure: Number of heavy drinking days, as measured by the Time Line Follow Back

Time: Over 12 weeks

Description: Corroborated with PEth levels

Measure: Time to relapse, as measured by the Time Line Follow Back

Time: Over 12 weeks

Description: Corroborated with PEth levels

Measure: Time to lapse, as measured by the Time Line Follow Back

Time: Over 12 weeks

Description: Corroborated with PEth levels

Measure: Number of days abstinent, as measured by the Time Line Follow Back

Time: Over 12 weeks

Description: Corroborated with PEth levels

Measure: Number of standard drinks per drinking day, as measured by the Time Line Follow Back

Time: 12 weeks

Secondary Outcomes

Description: as reported by patient during weekly medical management sessions facilitated by the treating doctor.

Measure: Self report of adverse events

Time: 12 weeks

Description: as measured by amount of time spent thinking and craving for alcohol, difficulty in resisting consumption of alcohol if present and hypothetical pleasure associated with consumption of alcohol.

Measure: Penn Alcohol Craving Scale for alcohol craving

Time: 12 weeks

Description: as measured by cumulative score of anxiety related questions on the Depression, Anxiety Stress Scale-21 (DASS21).

Measure: DASS21 score for presence and/or severity of anxiety

Time: 12 weeks

Description: as measured by cumulative score for depression related questions

Measure: DASS21 score for presence and/or severity of depression

Time: 12 weeks

Description: as measured by cumulative score of satisfaction with current sleep patterns and extent to which sleep disturbances interfere and impair with every day activities and daily functioning

Measure: Insomnia Severity Index for sleep disturbances

Time: 12 weeks

Description: as measured by fasting blood glucose levels in blood

Measure: Blood glucose test for diabetes

Time: 12 weeks

Description: as measured by levels of liver enzymes, Alanine Transaminase (ALT), Alkaline Phosphatase (ALP) and Aspartate Transaminase (AST) in blood

Measure: Liver function tests for clinical markers of liver injury

Time: 12 weeks

Description: as measured by weight in kilograms (kg) and height in metres (m). These two measurements will be combined together to report BMI in kg/m^2.

Measure: Body Mass Index

Time: 12 weeks

Measure: Number of cigarettes smoked daily, as measured by Time Line Follow Back

Time: 12 weeks

Description: as measured using a scale of the likelihood of having a good time and feeling more relaxed if alcohol was consumed.

Measure: Self report of daily measures of expectancies, confidence and drinking

Time: 12 weeks

Other Outcomes

Measure: The moderating effect of the OPRM1 polymorphism in response to naltrexone, as measured by number of heavy drinking days

Time: 12 weeks

Measure: Cost-effectiveness of topiramate versus naltrexone, as measured by Disability-Adjusted Life Years (DALYs)

Time: 12 weeks

4 Leveraging Biomarkers for Personalized Treatment of Alcohol Use Disorder Comorbid With Post Traumatic Stress Disorder

This is a double-blind, 2-group randomized controlled trial evaluating the effects of topiramate versus placebo in patients with comorbin PTSD and moderate-to-severe AUD. This trial will provide one of the first rigorous tests of whether the effects of topiramate in AUD generalize to patients with co-occurring PTSD, and one of the first rigorous tests of whether topiramate has beneficial effects on PTSD symptoms in this population. It will be the first study to test whether the rs2832407 genotype predicts clinical response to topiramate for AUD and PTSD in patients with both disorders. Further, it will contribute to the understanding of topiramate's mechanisms of action in the co-morbid AUD/PTSD population, and to the discovery of predictors of treatment response.

NCT03667846 Post Traumatic Stress Disorder Alcohol Use Disorder Drug: Topiramate Other: Placebo
MeSH: Disease Alcoholism Stress Disorders, Traumatic Stress Disorders, Post-Traumatic Alcohol Drinking

It will be the first study to test whether the rs2832407 genotype predicts clinical response to topiramate for AUD and PTSD in patients with both disorders.

A recent clinical study demonstrated that the effects of topiramate on alcohol use were moderated by a polymorphism of the GRIK1 gene (coding for the kainate receptor GluK1 subunit), such that significant benefit was found only among rs2832407 C-allele homozygotes.

This trial is designed to contrast acute and persisting effects of topiramate to those of placebo treatment in a sample of 150 participants with comorbid PTSD and moderate to severe AUD, and to evaluate the moderating effect of rs2832407 genotype on medication effects.

Primary Outcomes

Description: Retrospective estimate of daily alcohol consumption over a time period ranging from 7 days to 24 months prior to initial interview

Measure: Measure of Time-line Follow-back (TLFB)

Time: Day 1

Description: Percentage of day abstinent from alcohol between week 9 and week 12

Measure: Percent Day Abstinent from Alcohol

Time: Week 9 to Week 12

Description: 20-item self-report measure that assesses the 20 DSM-5 symptoms of PTSD. The symptom severity score (range - 0-80) can be obtained by summing the scores for each of the 20 items. Each question is measured on a 5-point Likert (0 = "Not at all" to 4 = "Extremely"). A total symptom severity score (range - 0-80; 80 being more severe) can be obtained by summing the scores for each of the 20 items.

Measure: PCL-5 score

Time: Week 9 to Week 12


HPO Nodes