Genetic: Genetic test: ACTN3 polymorphism ( DrugBank: - )


3 diseases
IDDisease name (Link within this page)Number of trials
3Spinal muscular atrophy1
15Inclusion body myositis1
256Muscle glycogenosis1

3. Spinal muscular atrophy


Clinical trials : 217 Drugs : 149 - (DrugBank : 33) / Drug target genes : 54 - Drug target pathways : 80
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
1NCT05272969
(ClinicalTrials.gov)
March 31, 202228/1/2022Pompe & Pain - Study to Assess Nociceptive Pain in Adult Patients With Pompe DiseasePompe & Pain - Observational Study to Assess Musculoskeletal Pain in Late-onset Pompe Disease (LOPD)Pompe Disease (Late-onset);Inclusion Body Myositis;Spinal Muscular Atrophy Type 3;FSHDDiagnostic Test: Beck depression inventory fast screen (Questionnaire);Diagnostic Test: Brief Pain Inventory (BPI) (Questionnaire);Diagnostic Test: German Pain Inventory (Questionnaire);Diagnostic Test: Fatigue Severity and Disability Scale (FSS) (Questionnaire);Diagnostic Test: Rotterdam Handicap Scale (RHS) (Questionnaire);Diagnostic Test: R-PAct (Questionnaire);Diagnostic Test: Quick Motor Function Test;Diagnostic Test: Handheld Dynamometry (HHD);Diagnostic Test: Six-minute walk test (6MWT);Diagnostic Test: Pressure pain threshold;Diagnostic Test: Muscle ultrasound;Diagnostic Test: Vital signs;Diagnostic Test: Borg Scale;Diagnostic Test: Laboratory assessment: Creatine kinase;Diagnostic Test: Laboratory assessment: Vitamin D Level;Diagnostic Test: Laboratory assessment: calcium;Diagnostic Test: Laboratory assessment: magnesium;Diagnostic Test: Laboratory assessment: phosphate;Genetic: Genetic test: ACE polymorphism;Genetic: Genetic test: ACTN3 polymorphism;Genetic: Blood draw for optional genetic exome sequencingLMU KlinikumNULLNot yet recruiting18 YearsN/AAll95Germany

15. Inclusion body myositis


Clinical trials : 42 Drugs : 60 - (DrugBank : 16) / Drug target genes : 12 - Drug target pathways : 123
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
1NCT05272969
(ClinicalTrials.gov)
March 31, 202228/1/2022Pompe & Pain - Study to Assess Nociceptive Pain in Adult Patients With Pompe DiseasePompe & Pain - Observational Study to Assess Musculoskeletal Pain in Late-onset Pompe Disease (LOPD)Pompe Disease (Late-onset);Inclusion Body Myositis;Spinal Muscular Atrophy Type 3;FSHDDiagnostic Test: Beck depression inventory fast screen (Questionnaire);Diagnostic Test: Brief Pain Inventory (BPI) (Questionnaire);Diagnostic Test: German Pain Inventory (Questionnaire);Diagnostic Test: Fatigue Severity and Disability Scale (FSS) (Questionnaire);Diagnostic Test: Rotterdam Handicap Scale (RHS) (Questionnaire);Diagnostic Test: R-PAct (Questionnaire);Diagnostic Test: Quick Motor Function Test;Diagnostic Test: Handheld Dynamometry (HHD);Diagnostic Test: Six-minute walk test (6MWT);Diagnostic Test: Pressure pain threshold;Diagnostic Test: Muscle ultrasound;Diagnostic Test: Vital signs;Diagnostic Test: Borg Scale;Diagnostic Test: Laboratory assessment: Creatine kinase;Diagnostic Test: Laboratory assessment: Vitamin D Level;Diagnostic Test: Laboratory assessment: calcium;Diagnostic Test: Laboratory assessment: magnesium;Diagnostic Test: Laboratory assessment: phosphate;Genetic: Genetic test: ACE polymorphism;Genetic: Genetic test: ACTN3 polymorphism;Genetic: Blood draw for optional genetic exome sequencingLMU KlinikumNULLNot yet recruiting18 YearsN/AAll95Germany

256. Muscle glycogenosis


Clinical trials : 180 Drugs : 153 - (DrugBank : 30) / Drug target genes : 31 - Drug target pathways : 134
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
1NCT05272969
(ClinicalTrials.gov)
March 31, 202228/1/2022Pompe & Pain - Study to Assess Nociceptive Pain in Adult Patients With Pompe DiseasePompe & Pain - Observational Study to Assess Musculoskeletal Pain in Late-onset Pompe Disease (LOPD)Pompe Disease (Late-onset);Inclusion Body Myositis;Spinal Muscular Atrophy Type 3;FSHDDiagnostic Test: Beck depression inventory fast screen (Questionnaire);Diagnostic Test: Brief Pain Inventory (BPI) (Questionnaire);Diagnostic Test: German Pain Inventory (Questionnaire);Diagnostic Test: Fatigue Severity and Disability Scale (FSS) (Questionnaire);Diagnostic Test: Rotterdam Handicap Scale (RHS) (Questionnaire);Diagnostic Test: R-PAct (Questionnaire);Diagnostic Test: Quick Motor Function Test;Diagnostic Test: Handheld Dynamometry (HHD);Diagnostic Test: Six-minute walk test (6MWT);Diagnostic Test: Pressure pain threshold;Diagnostic Test: Muscle ultrasound;Diagnostic Test: Vital signs;Diagnostic Test: Borg Scale;Diagnostic Test: Laboratory assessment: Creatine kinase;Diagnostic Test: Laboratory assessment: Vitamin D Level;Diagnostic Test: Laboratory assessment: calcium;Diagnostic Test: Laboratory assessment: magnesium;Diagnostic Test: Laboratory assessment: phosphate;Genetic: Genetic test: ACE polymorphism;Genetic: Genetic test: ACTN3 polymorphism;Genetic: Blood draw for optional genetic exome sequencingLMU KlinikumNULLNot yet recruiting18 YearsN/AAll95Germany