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Clinical Trials/NCT06390566
NCT06390566Active, not recruitingNot Applicable

Evolution of the Functional and Muscular State and Quality of Life of Patients With Limb-girdle Muscular Dystrophy 2A: CALNATHIS Prospective Cohort Study

Assistance Publique - Hôpitaux de Paris1 site in 1 country25 target enrollmentStarted: May 28, 2024Last updated:
Conditions

Trial Snapshot

Phase
Not Applicable
Status
Active, not recruiting
Enrollment
25
Locations
1
Primary Endpoint
Evaluation of the loss of strength of muscle groups in patients with LGMD2A

Study Overview

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.

Detailed Description

Intro:

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

To be considered a form of limb-girdle muscular dystrophy, according to the European Neuromuscular Center, the condition must be described in at least two unrelated families with affected individuals achieving independent walking, must have elevated serum creatine kinase activity, must demonstrate degenerative changes on muscle imagery over the course of the disease, and must exhibit dystrophic changes on muscle histology, ultimately leading to end-stage pathology for the most affected muscles.

They are classified into dominant forms (LGMD 1, old nomenclature; LGMD D, new nomenclature) and recessive forms (LGMD 2, old nomenclature; LGMD R new nomenclature). Recessive forms predominate in terms of number of subtypes and individual prevalence, with regional variations due to founder effects in some cases (Murphy et al, 2015).

Individually, distinct subtypes of LGMD are relatively rare; however, as a group, the minimum prevalence of LGMD is probably between 2.27 per 100,000 and 10 per 100,000. In Europe and the United States, calpainopathies, also called LGMD R1 or LGMD-2A (OMIM 253600 ), are the most common of the different types of LGMD, accounting for up to 30% of all cases of recessive LGMD.

Study Design

Study Type
Observational
Observational Model
Cohort
Time Perspective
Prospective

Eligibility Criteria

Ages
18 Years to — (Adult, Older Adult)
Sex
All
Accepts Healthy Volunteers
No

Inclusion Criteria

  • 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).

Exclusion Criteria

  • Patient with another disease likely to significantly interfere with the interpretation of the natural history of LGMD2A
  • Participant in a clinical trial with an investigational product within 3 months preceding inclusion
  • 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

Outcomes

Primary Outcomes

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

Time Frame: 2 years

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

Secondary Outcomes

No secondary outcomes reported

Investigators

Sponsor Class
Other
Responsible Party
Sponsor

Study Sites (1)

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