Evolution of the Functional and Muscular State of Patients With Muscular Dystrophy 2A Belts

NCT06390566 | Active Not Recruiting

• 1 other identifier: APHP230610
• Study Type: observational
• Target: 25
• Locations: 1 country
• Sites: 1

Brief Summary

Limb girdle muscular dystrophies were originally defined as a postnatal progressive muscle disease, which begins and primarily affects the pelvic and scapular muscles.

Conditions

Limb Girdle Muscular Dystrophy

Keywords

LGMD2A; NSAD; ACTIVLIM; 10MWT; MRI

Outcome Measures

Primary Outcomes (1)

• Evaluation of the loss of strength of muscle groups in patients with LGMD2A

  identify and quantify the loss of strength of upper and lower limb muscle groups in patients with LGMD2A

  2 years

Interventions

calpaïnopathies OTHER

Identify and quantify the loss of strength of upper and lower limb muscle groups in patients with LGMD2A

Also known as: LGMD2A

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

patients with LGMD2A already followed at the Reference Center for Neuromuscular Diseases at Henri Mondor Hospital

You may qualify if:

• Confirmed diagnosis of autosomal recessive LGMD2A (two pathogenic mutations in the calpain 3 gene)
• Ability to participate in the tests and examinations planned by the study (manual muscle tests, motor scales)
• Informed and having signed a consent form
• Affiliate to a social security scheme in France (beneficiary or entitled person).

You may not qualify if:

• Patient with another disease likely to significantly interfere with the interpretation of the natural history of LGMD2A
• Patient unable or unwilling to comply with protocol requirements
• Patient under guardianship, curatorship or legal protection
• Pregnant or breastfeeding woman
• Patient deprived of liberty
• Adult patient unable to express consent
• Refusal to participate

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Hôpital Henri Mondor

Créteil, Île-de-France Region, 94130, France

Location

Biospecimen

Retention: SAMPLES WITH DNA

During the V1 inclusion visit, the information leaflet will be given to the patient, the inclusion and non-inclusion criteria will be checked and the patient will sign the consent form. On the morning of the 1st day of the V1 inclusion visit, demographic data/medical history/diseases will be collected. A physical examination including taking vital signs, grading according to the Brooke and Vignos scales and MRC muscle testing will be carried out. Following this, samples for the biobank (hematology, biochemistry and coagulation) will be taken. In the afternoon, a muscular MRI/MRS will be performed.

MeSH Terms

Conditions

Muscular Dystrophies, Limb-Girdle; Limb-girdle muscular dystrophy type 2A

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 25, 2024
• First Posted: April 30, 2024
• Study Start: May 28, 2024
• Primary Completion (Estimated): May 28, 2027
• Study Completion (Estimated): May 28, 2027
• Last Updated: January 15, 2026

Record last verified: 2026-01

Locations

FR (1)