Natural History Study in Patients With LGMDR5/2c

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

Primary outcomes

• 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 outcomes

• Forced Vital Capacity (FVC) [Baseline through 24 months]: Percent change from baseline in FVC
• 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)

Sex: All, ages: 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