SNPMiner Trials (Home Page)
Report for Mutation L144F
Developed by Shray Alag, 2020.
SNP Clinical Trial Gene
There are 2 clinical trials
Clinical Trials
1 Influence of OCTN2 Variants on Carnitine Status and Plasma Triglycerides
The current study is part of a large multi-investigator grant to look at the pharmacogenetics of a number of membrane transporters. Previously, the investigators have recruited a cohort of healthy volunteers (Studies of Pharmacogenetics in Ethnically-Diverse Populations, or SOPHIE) and have resequenced the coding region of a number of membrane transporter genes to identify genetic polymorphisms in these genes. Subjects in this cohort have agreed to be called back for recruitment in further studies based on their own genetic sequence, allowing the investigators the possibility to prospectively study the influence of genetic polymorphisms on particular phenotypes (i.e., genotype-to-phenotype studies). The investigators plan to take a genotype-to-phenotype approach to study the influence of specific polymorphisms in the novel organic cation transporter 2 (OCTN2) gene on carnitine and lipid metabolism in healthy subjects.
NCT00187733 Carnitine Transporter Deficiency Other: Fasting blood and urine collection
We found eight amino acid sequence variants of OCTN2, of which three (Phe17Leu, Leu144Phe, and Pro549Ser) were polymorphic in at least one ethnic group. --- Phe17Leu --- --- Leu144Phe ---
2 Phase II/III Randomized, Placebo-Controlled Trial of Arimoclomol in SOD1 Positive Familial Amyotrophic Lateral Sclerosis (ALS)
The purpose of this study will be to demonstrate the safety, tolerability, and efficacy of arimoclomol in subjects with SOD1 positive familial Amyotrophic Lateral Sclerosis (ALS). This type of ALS is HEREDITARY (runs in families), and at least one other person in the family must have had ALS. Study hypotheses: Arimoclomol, taken at a dose of 200 mg three times daily will improve survival as defined by time to death, tracheostomy or permanent assisted ventilation. In addition, it will be safe and well tolerated in subjects with SOD1 positive familial ALS. Funding Source - FDA-OOPD
NCT00706147 Amyotrophic Lateral Sclerosis Drug: Arimoclomol Drug: Placebo MeSH:Motor Neuron Disease Amyotrophic Lateral Sclerosis Sclerosis
HPO:Abnormal anterior horn cell morphology Amyotrophic lateral sclerosis
A4V, A4T, C6F, C6G, V7E, L8Q, G10V, G41S, H43R, H48Q, D90V, G93A, D101H, D101Y, L106V, I112M, I112T, R115G, L126X, G127X, A145T, V148G, V148I) or possibly associated with rapidly progressive disease (E21G, G37R, L38V, D76Y, L84F, L84V, N86S, D90A het, G93R, I104F, I113T, L144F, L144S). --- G10V --- --- G41S --- --- H43R --- --- H48Q --- --- D90V --- --- G93A --- --- D101H --- --- D101Y --- --- L106V --- --- I112M --- --- I112T --- --- R115G --- --- A145T --- --- V148G --- --- V148I --- --- E21G --- --- G37R --- --- L38V --- --- D76Y --- --- L84F --- --- L84V --- --- N86S --- --- D90A --- --- G93R --- --- I104F --- --- I113T --- --- L144F ---
Primary Outcomes
Measure: Time to death, tracheostomy or permanent assisted ventilation will be the primary outcome measure. Time: 12 monthsSecondary Outcomes
Measure: Rate of decline of ALSFRS-R (ALS functional rating scale-revised) over a period of up to 12 months. Time: 12 monthsMeasure: Disease progression as measured by the rate of decline of FEV6. Time: 12 months
Measure: Safety and tolerability of arimoclomol will be evaluated by using vital signs and weight, clinical laboratory measures, physical examination, report of adverse events, and the proportion of subjects completing the study on assigned treatment. Time: 12 months