Observational Cohort Study of Dysferlinopathy in China

NCT07035145 | Completed

• 1 other identifier: NSFC82301584
• Study Type: observational
• Target: 160
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Dysferlinopathy

Keywords

phenotype; natural history; genotype

Outcome Measures

Primary Outcomes (3)

• Clinical status of patients with dysferlinopathy (MMT score)

  Muscle strength will be assessed using MMT and will be expressed in points for each of the muscle groups assessed. Data will be reported from 0 to 5, with lower score pointing to weaker muscle strength.

  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

  A functional scale that will be used to measure motor performance in individuals with LGMD. Data will be reported from 0 to 54, with lower score pointing to worse motor performance.

  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)

  The participant will be asked to complete maximal distance in 6 minute as quickly as safely possible and the time in seconds is recorded.

  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

Secondary Outcomes (2)

• Muscle MRI in patients with dysferlinopathy

  At baseline and during patients visits and follow-up through study completion, an average of 1 year.

• Muscle pathology analysis in patients with dysferlinopathy (dysferlin and inflammatory infiltration detection )

  Conducted with informed consent at baseline.

Study Arms (1)

Dysferlinopathy

All patients with dysferlinopathy in China, irrespective of age. These dysferlinopathy patients were diagnosed according to i) two (predicted) pathogenic variations in DYSF gene, ii) one (predicted) pathogenic variation plus either absent dysferlin protein expression on muscle immunoblot (muscle biopsy was performed at Peking University First Hospital).

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

All patients with dysferlinopathy in China, irrespective of age. These dysferlinopathy patients were diagnosed according to i) two (predicted) pathogenic variations in DYSF gene, ii) one (predicted) pathogenic variation plus either absent dysferlin protein expression on muscle immunoblot (muscle biopsy was performed at Peking University First Hospital).

You may qualify if:

• 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.

You may not qualify if:

• 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).

Sponsors & Collaborators

• Peking University First Hospital: lead

Study Sites (1)

Peking University First Hospital

Beijing, Beijing Municipality, 100034, China

Location

Biospecimen

Retention: SAMPLES WITH DNA

Serum, Plasma, DNA, and RNA.

MeSH Terms

Conditions

Dysferlinopathy

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 1 Year
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Dr.

Study Record Dates

• First Submitted: June 4, 2025
• First Posted: June 24, 2025
• Study Start: May 1, 2024
• Primary Completion: March 15, 2025
• Study Completion: March 31, 2025
• Last Updated: June 24, 2025

Record last verified: 2025-06

Locations

CN (1)