Natural History Study of Patients With Limb-Girdle Muscular Dystrophy 2I

Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Limb-Girdle Muscular Dystrophy 2I

Prospective, longitudinal, interventional, single-group, multicenter natural history study to better know the LGMD2I 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

Study objectives Primary objective:

To characterize the disease course in Limb-Girdle Muscular Dystrophy 2I (LGMD2I) patients using standardized and disease appropriate evaluations.

Secondary objectives:

To identify clinical, imaging and/or laboratory parameters that are indicators of the disease course in LGMD2I To identify the best outcome measure for further therapeutics approaches

Inclusion Criteria:

1. Female and male patients
2. Patients ≥ 16 years old
3. Clinical diagnosis of LGMD2I and gene testing demonstrating two pathogenic mutations in fukutin-related protein gene, FKRP)
4. Ambulant patients

Exclusion Criteria:

1. Patients presenting other disease which may significantly interfere with the interpretation of LGMD2I natural history