CompletedNot Applicable

Observational Cohort Study of Dysferlinopathy in China

China160 participantsStarted 2024-05-01

Plain-language summary

The cohort data to be collected aims to evaluate the phenotype, disease progression, natural history, as well as molecular, genetic, and morphological characteristics of dysferlinopathies (LGMD2B/Miyoshi) in China, contributing to the development of clinical outcome measures and the identification of potential biomarkers for future clinical trials.

Who can participate

SexALL

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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: * Male or female patients of all ages at baseline. * Confirmed diagnosis of dysferlinopathy proven by i) two (predicted) pathogenic variations in DYSF gene, ii) one (predicted) pathogenic variation plus either absent dysferlin protein expression on muscle immunoblot. Mutations will be checked for pathogenicity via the UMD bioinformatics tools and and by checking the literature and mutation /variant databases. * Ambulant with or without aids; or full-time wheelchair user, i.e. non-ambulant; with the ratio 2:1 between recruited ambulant and recruited non-ambulant patients. * Ability to perform assessments (there will be different assessments for ambulant and non-ambulant patients). * Informed consent to participate in the study. Exclusion Criteria: * Decline to participate. * Other neuromuscular disease (such as Duchenne/Becker muscular dystrophy or Myotonic dystrophy). * Serious systemic illness (such as cute cardiac, renal, hepatic insufficiency, myocardial infarction or an acute cerebrovascular accident (stroke) as well as infectious diseases).

What they're measuring

Clinical status of patients with dysferlinopathy (MMT score)

Timeframe: From date of randomization until the date of first documented progression or date of death from any cause, whichever came first, assessed up to 20 years

North Star assessment for limb girdle-type muscular dystrophies (NSAD) in patients with dysferlinopathy

Timeframe: From date of randomization until the date of first documented progression or date of death from any cause, whichever came first, assessed up to 20 years

Clinical status of patients with dysferlinopathy (6-minute walk test)

Timeframe: From date of randomization until the date of first documented progression or date of death from any cause, whichever came first, assessed up to 20 years

Trial details

NCT IDNCT07035145

SponsorPeking University First Hospital

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2025-03-15

View on ClinicalTrials.gov More Dysferlinopathy trials

Plain-language summary

Who can participate

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

What they're measuring

Clinical status of patients with dysferlinopathy (MMT score)

Timeframe: From date of randomization until the date of first documented progression or date of death from any cause, whichever came first, assessed up to 20 years

North Star assessment for limb girdle-type muscular dystrophies (NSAD) in patients with dysferlinopathy

Timeframe: From date of randomization until the date of first documented progression or date of death from any cause, whichever came first, assessed up to 20 years

Clinical status of patients with dysferlinopathy (6-minute walk test)

Timeframe: From date of randomization until the date of first documented progression or date of death from any cause, whichever came first, assessed up to 20 years