Observational Cohort Study of Dysferlinopathy in China (NCT07035145) | Clinical Trial Compass
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
Sex
ALL
See this in plain English?
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).
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
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
2
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
3
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