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

LGMD2I Clinical Trial

Official title:

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

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT03842878
• Other study ID #: GNT-015-FKRP
• Status: Active, not recruiting
• Start date: February 19, 2020
• Est. completion date: December 30, 2023

Study information

• Verified date: April 2023
• Source: Genethon
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 52
• Est. completion date: December 30, 2023
• Est. primary completion date: December 30, 2023
• Accepts healthy volunteers: No
• Gender: All
• Age group: 16 Years to 99 Years

Eligibility

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

Related Conditions & MeSH terms

• LGMD2I
• Muscular Dystrophies

Locations

Country	Name	City	State
Denmark	Pr John Vissing	Copenhagen
France	Dr Tanya Stojkovic	Paris
United Kingdom	Pr Volker Straub	Newcastle

Sponsors (1)

Lead Sponsor	Collaborator
Genethon

Countries where clinical trial is conducted

Denmark,  France,  United Kingdom, 

Outcome

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