lack of financing

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.

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

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

The study will enroll 30 ambulant pediatric patients less than 12 years of age (cohort 1) and 20 non-ambulant adolescent or young adults less than 35 years of age (cohort 2)