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