A Prospective Longitudinal Study of Natural History and Functional Status of Patients With Gamma-sarcoglycanopathy (LGMDR5)
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Gamma-sarcoglycanopathy
- Sponsor
- Atamyo Therapeutics
- Enrollment
- 50
- Locations
- 3
- Primary Endpoint
- Timed Up and Go (TUG)
- Status
- Withdrawn
- Last Updated
- 6 months ago
Overview
Brief Summary
Prospective, longitudinal, interventional, multicenter natural history study to better understand the LGMDR5/2c disease physiopathology. The duration of participation for each patient will be up to 24 months.
Detailed Description
Study duration Duration from First visit of first patient (FPFV) to Last visit of last patient (LPLV) : 3 years. Each patient will have a visit every 6 months over 2 years (5 visits in total). Study primary objective is to characterize the disease course in gamma-sarcoglycanopathy (LGMDr5/2c) patients using standardized and disease appropriate evaluations. Secondary objectives are to identify clinical, imaging and/or laboratory parameters that are indicators of the disease course in LGMD2c and to identify the best outcome measure for further therapeutics approaches
Investigators
Eligibility Criteria
Inclusion Criteria
- •Male and female patients 6 to less than 35 years of age
- •Ambulant patients should be less than 12 years of age and able to walk/run 10 meters (item 29 of NSAD) in less than 15 sec
- •Confirmed diagnosis of LGMDR5 (genotyping)
- •FVC \> 40%
Exclusion Criteria
- •Subjects with co-morbidity which may interfere with LGMDR5 natural evolution and/or evaluation of outcome measures
- •Need of non-invasive ventilation \> 16h per 24h or any invasive ventilation
- •Left ventricular ejection fraction (LVEF) \< 30% or prior heart failure decompensation requiring hospitalization
- •Past participation in a gene therapy or cell therapy trial
Outcomes
Primary Outcomes
Timed Up and Go (TUG)
Time Frame: Baseline through 24 months
Change from baseline in time to complete TUG
100-meter walk/run test (100MWT)
Time Frame: Baseline through 24 months
Change from baseline in time to complete 100MWT
Performance of Upper Limb (PUL)
Time Frame: Baseline through 24 months
Change from baseline in PUL score (with a score range from 0 to 42, the higher the score the better the ability)
North Star Assessment for Neuromuscular Disorders (NSAD)
Time Frame: Baseline through 24 months
Change from baseline in NSAD score (with a score range from 0 to 54, the higher the score the better the ability)
Secondary Outcomes
- Change from baseline in Activlim score(Baseline through 24 months)
- Forced Vital Capacity (FVC)(Baseline through 24 months)
- Muscle MRI(Baseline though 24 months)