SNPMiner Trials (Home Page)
Report for Mutation G10V
 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 --- 
  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>