SNPMiner Trials (Home Page)
Report for Mutation H43R
Developed by Shray Alag, 2020.
SNP Clinical Trial Gene
There is one clinical trial.
Clinical Trials
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
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 ---
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 18
ASAH1 TFG CPLANE1 CEP126 DCTN1 IGHMBP2 PRPH SMN1 SMN2 VRK1 SMN1 ATXN3 UBA1 SOD1 SMN1 NEFH SETX GLE1 hr>
Amyotrophic lateral sclerosis
Genes 77
MATR3 TREM2 VCP FUS PRPH ANXA11 ALS2 C9ORF72 HNRNPA1 PRPH PFN1 FUS UBQLN2 SQSTM1 ATXN2 MATR3 TBK1 CHMP2B SIGMAR1 PON1 OPTN MAPT MATR3 ANG VCP DAO ERBB4 SQSTM1 SPG11 NEFH EPHA4 CCNF ANG TARDBP DCTN1 PON2 SOD1 ANXA11 UBQLN2 GLT8D1 FIG4 OPTN DCTN1 TARDBP CHMP2B VAPB SIGMAR1 HNRNPA1 CFAP410 PFN1 PSEN1 HNRNPA1 SOD1 SPG11 C9ORF72 ALS2 TRPM7 ERBB4 CHCHD10 KIF5A VAPB PON3 FIG4 GLE1 NEK1 CHCHD10 PPARGC1A TUBA4A VCP UNC13A TBK1 VCP HNRNPA2B1 TAF15 FUS NEFH SETX hr>