Gamma-sarcoglycanopathy
Conditions
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
Interventions
None listed
Sponsors
Atamyo Therapeutics
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
6 Years to 35 Years
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| North Star Assessment for Neuromuscular Disorders (NSAD) | 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) |
| Performance of Upper Limb (PUL) | 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) |
| Timed Up and Go (TUG) | Baseline through 24 months | Change from baseline in time to complete TUG |
| 100-meter walk/run test (100MWT) | Baseline through 24 months | Change from baseline in time to complete 100MWT |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Muscle MRI | Baseline though 24 months | Change from baseline in Fat fraction in thigh and leg skeletal muscles |
| Change from baseline in Activlim score | Baseline through 24 months | Scale measuring level of limitation in performing daily activities (total score ranging from 0 to 44, with the lower score with highest limitation) |
| Forced Vital Capacity (FVC) | Baseline through 24 months | Percent change from baseline in FVC |
Countries
France, Tunisia
Outcome results
None listed