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

• ClinicalTrials.gov Identifier: NCT03842878
• Recruitment Status: Active, not recruiting
• First Posted: February 15, 2019
• Last Update Posted: January 5, 2022
• Sponsor: Genethon
• Information provided by (Responsible Party): Genethon

Study Description

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.

Condition or disease
LGMD2I

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 Design

• Study Type: Observational
• Actual Enrollment: 52 participants
• Observational Model: Cohort
• Time Perspective: Prospective
• Official Title: Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Limb-Girdle Muscular Dystrophy 2I
• Actual Study Start Date: February 19, 2020
• Estimated Primary Completion Date: December 30, 2023
• Estimated Study Completion Date: December 30, 2023

Groups and Cohorts

Outcome Measures

Primary Outcome Measures :

1. 6-Minute Walk Test [ Time Frame: Baseline through 24 months ]
   Primary endpoint
2. 10-Meter Walk test (10MWT) [ Time Frame: Baseline through 24 months ]
   Primary endpoint
3. Timed Up and Go (TUG) test [ Time Frame: Baseline through 24 months ]
   Primary endpoint
4. Four-stair climb test [ Time Frame: Baseline through 24 months ]
   Primary endpoint
5. North Star Assessment for Neuromuscular Disorders (NSAD) [ Time Frame: Baseline through 24 months ]
   Scale to assess patient's abilities necessary to remain functionnaly ambulant
6. Upper limb assessment via the Performance of the Upper Limb (PUL) tool version 2.0 [ Time Frame: Baseline through 24 months ]
   Primary endpoint
7. Recording of aids for ambulation [ Time Frame: Baseline through 24 months ]
   Primary endpoint
8. Isokinetic muscle testing using the Biodex System (optional) [ Time Frame: Baseline through 24 months ]
   Primary endpoint
9. Pulmonary function test [ Time Frame: Baseline through 24 months ]
   Primary endpoint
10. Electrocardiogram [ Time Frame: Baseline through 24 months ]
    Presence of cardiac abnormalities or any ventricular extrasystoles will be investigated
11. Echocardiography [ Time Frame: Baseline through 24 months ]
    Cardiac dimensions will be measured to investigate the presence of any dilated cardiomyopathy

Biospecimen Retention:   Samples Without DNA

Blood and urine

Eligibility Criteria

• Ages Eligible for Study: 16 Years to 99 Years (Child, Adult, Older Adult)
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No
• Sampling Method: Non-Probability Sample

Study Population

Female and male patients ≥ 16 years old

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

Contacts and Locations

Locations

Denmark

Pr John Vissing

Copenhagen, Denmark, DK-2100

France

Dr Tanya Stojkovic

Paris, France, 75013

United Kingdom

Pr Volker Straub

Newcastle, United Kingdom, NE1 3BZ

Sponsors and Collaborators

Genethon

Investigators

• Principal Investigator: John Vissing, PR; Professor of neurology

More Information

• Responsible Party: Genethon
• ClinicalTrials.gov Identifier: NCT03842878
• Other Study ID Numbers: GNT-015-FKRP
• First Posted: February 15, 2019
• Last Update Posted: January 5, 2022
• Last Verified: May 2021

Individual Participant Data (IPD) Sharing Statement:

• Plan to Share IPD: Undecided

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:

Muscular Dystrophies; Muscular Dystrophies, Limb-Girdle; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, Inborn