SNPMiner Trials by Shray Alag


SNPMiner Trials: Mutation Report


Report for Mutation G93R

Developed by Shray Alag, 2019.
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 Amyotrophic Lateral Sclerosis Drug: Arimoclomol Drug: Placebo
MeSH: Sclerosis Motor Neuron Disease Amyotrophic Lateral 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 ---

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


Abnormal anterior horn cell morphology
Genes 12
CPLANE1 VRK1 IGHMBP2 UBA1 TFG SOD1 SETX CEP126 ASAH1 GLE1 SMN1 ATXN3
Amyotrophic lateral sclerosis
Genes 44
VAPB TREM2 CCNF PON1 PON2 PON3 NEFH DAO PPARGC1A TARDBP NEK1 ALS2 SPG11 ERBB4 CHCHD10 TAF15 OPTN SETX FUS UBQLN2 ANG PSEN1 C9ORF72 PFN1 DCTN1 ATXN2 FIG4 SIGMAR1 MAPT HNRNPA1 GLE1 HNRNPA2B1 TUBA4A SQSTM1 UNC13A CFAP410 MATR3 TBK1 ANXA11 SOD1 VCP CHMP2B EPHA4 PRPH