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

Launched by GENETHON · Feb 14, 2019

Keywords

ClinConnect Summary

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

Gender

ALL

Eligibility criteria

• 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