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

Active, not recruiting

• Conditions: LGMD2I

• Registration Number: NCT03842878
• Lead Sponsor: Genethon

Brief Summary

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.

Detailed 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

Study Timeline

• Study First Submitted: 2019-02-13
• Study First Submitted QC: 2019-02-14
• Study First Posted: 2019-02-15
• Study Start: 2020-02-19
• Status Verified: 2023-04
• Last Update Submitted: 2023-04-05
• Last Update Posted: 2023-04-06
• Primary Completion: 2023-12-30
• Study Completion: 2023-12-30

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 52

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
6-Minute Walk Test	Baseline through 24 months	Primary endpoint
10-Meter Walk test (10MWT)	Baseline through 24 months	Primary endpoint
Timed Up and Go (TUG) test	Baseline through 24 months	Primary endpoint
Four-stair climb test	Baseline through 24 months	Primary endpoint
Recording of aids for ambulation	Baseline through 24 months	Primary endpoint
North Star Assessment for Neuromuscular Disorders (NSAD)	Baseline through 24 months	Scale to assess patient's abilities necessary to remain functionnaly ambulant
Electrocardiogram	Baseline through 24 months	Presence of cardiac abnormalities or any ventricular extrasystoles will be investigated
Upper limb assessment via the Performance of the Upper Limb (PUL) tool version 2.0	Baseline through 24 months	Primary endpoint
Isokinetic muscle testing using the Biodex System (optional)	Baseline through 24 months	Primary endpoint
Pulmonary function test	Baseline through 24 months	Primary endpoint
Echocardiography	Baseline through 24 months	Cardiac dimensions will be measured to investigate the presence of any dilated cardiomyopathy

Trial Locations

Locations (3)

Pr John Vissing; 🇩🇰 Copenhagen, Denmark

Dr Tanya Stojkovic; 🇫🇷 Paris, France

Pr Volker Straub; 🇬🇧 Newcastle, United Kingdom