An observational study in Dysferlinopathy, sponsored by Peking University First Hospital. Completed at 1 site in China. Per ClinicalTrials.gov, last updated 2025-06-24.
Sponsored by Peking University First Hospital · Observational
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.
Dysferlinopathy is an autosomal recessive myopathy caused by mutations in the DYSF gene. Dysferlinopathy represents a rare group of muscular dystrophies, characterized by the "core" phenotypes of Miyoshi Myopathy (MM), Limb-Girdle Muscular Dystrophy Type R2 (LGMDR2) and the rarer distal myopathy with anterior tibial involvement. As the disease progresses, involvement of both proximal and distal muscles is observed in many patients, deviating from the classic muscle weakness patterns of LGMD2B or Miyoshi Myopathy. In addition, the age at onset and the progression of muscle weakness exhibit considerable heterogeneity among patients. Compared to other types of muscular dystrophy, dysferlinopathy exhibits variable onset ages for wheelchair dependency and likely carries a lower risk of cardiac and respiratory complications. Therefore, detailed and regular assessments of motor function, along with follow-up, are essential for systematically understanding the disease progression and natural history of dysferlinopathy, as well as for providing data to support future clinical trials.
Dysferlinopathy is characterized by typical dystrophic pathological changes, including necrosis and regeneration of muscle fibers, hypertrophy and atrophy, as well as proliferation of connective tissue. The absence of DYSF protein expression on the sarcolemma is a key pathological hallmark and diagnostic criterion of dysferlinopathy. Moreover, inflammatory infiltration represents a significant pathological feature of this condition. Specific analysis of the immune environment in skeletal muscles may serve as a potential therapeutic target for dysferlinopathy in future research.
The Chinese dysferlinopathy patient registry is a nationwide, population-based observational cohort study encompassing dysferlinopathy patients across all age groups, collecting retrospective data at study entry and prospective data during follow-up. This registry is intended to contribute to the development of clinical outcome measures and the identification of potential biomarkers for future clinical trials.
Peking University First Hospital is the lead sponsor of 378 studies on the registry; 178 are open to participants now.
Counted across the registry records on this site, refreshed daily.
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).
Exclusion Criteria:
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).
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.
Time frame: 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.
Time frame: 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.
Time frame: 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
Muscle MRI in patients with dysferlinopathy
To characterize muscle involvement based on MRI results; To evaluate the progression of muscle involvement based on repeated MRI during follow-up;
Time frame: 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 )
Muscle biopsy samples were taken from the biceps brachii or quadriceps femoris. Serial frozen sections were stained with haematoxylin and eosin, modified Gomori trichrome, periodic acid-Schiff, oil red O, acid phosphatase enzyme, adenosine triphosphate enzyme (pH 4.5 and 10.8), nicotinamide adenine dinucleotide tetrazolium reductase, succinate dehydrogenase, and cytochrome c oxidase stains. The sections were immunohistochemically stained with primary antibodies against human dysferlin, desmin, major histocompatibility complex class-I, membrane attack complex (MAC), and CD cells (including CD3, CD4, CD8, CD20, and CD68).
Time frame: Conducted with informed consent at baseline.
Plan to share: Undecided
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This study is completed, as verified in Jun 2025. You cannot join it, but the record below documents what was studied.
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Dysferlinopathy
Peking University First Hospital