SNPMiner Trials by Shray Alag

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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation L106V

Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 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
Conditions
  1. Amyotrophic Lateral Sclerosis
Interventions
  1. Drug: Arimoclomol
  2. 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 ---

Primary Outcomes

Measure: Time to death, tracheostomy or permanent assisted ventilation will be the primary outcome measure.

Time: 12 months

Secondary Outcomes

Measure: Rate of decline of ALSFRS-R (ALS functional rating scale-revised) over a period of up to 12 months.

Time: 12 months

Measure: 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


HPO Nodes