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

Genethon

Status: Active, not recruiting

Conditions: LGMD2I

Study type: Observational

Funder types: Other

Identifiers

NCT03842878

GNT-015-FKRP

Details and patient eligibility

About

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.

Full description

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

Enrollment: 52 patients

Sex: All

Ages: 16 to 99 years old

Volunteers: No Healthy Volunteers

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