DysferlinopathyNCT07035145
Observational Cohort Study of Dysferlinopathy in China
An observational study of Dysferlinopathy, run by Peking University First Hospital at 1 site in China.
Trial 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… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Dysferlinopathy
- How many people
- 160 participants
- Where
- 1 siteChina
- Study dates
- 1 May 2024to 31 Mar 2025
- How long will I take part?
- 1 Year
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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).
Who may be able to join
- 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.
Who cannot join
- 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).
Trial locations and contacts
1 site in 1 country.
China1 site
Peking University First Hospital
Beijing, Beijing Municipality, 100034
About this study
Official title: A Registered Observational Cohort Study of Dysferlinopathy in China
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.
Read the detailed description
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.
- Conditions
- Dysferlinopathy
- Keywords
- phenotype, natural history, genotype
- Medical subject headings
- Dysferlinopathy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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). |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 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.
Measured: 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
To characterize muscle involvement based on MRI results; To evaluate the progression of muscle involvement based on repeated MRI during follow-up;
Measured: 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).
Measured: Conducted with informed consent at baseline.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Jun 2025
- Study start1 May 2024
- Primary completion15 Mar 2025
- Study completion31 Mar 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for DysferlinopathyStudies of the same condition, open and under way.
- More trials run by Peking University First HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 160 participants (actual)
- Target duration
- 1 Year
Sponsor and investigators
- Lead sponsor
- Peking University First Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Meng YU, Peking University First Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07035145
- Sponsor's protocol ID
- NSFC82301584
- Status last verified
- Jun 2025
- First submitted
- 4 Jun 2025
- Last updated
- 24 Jun 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 24 Jun 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Registered Observational Cohort Study of Dysferlinopathy in China
- ClinicalTrials.gov ID
- NCT07035145
- Acronym / sponsor ID
- NSFC82301584
- Conditions
- Dysferlinopathy
- Keywords
- phenotype, natural history, genotype
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 160 participants (actual)
- Lead sponsor
- Peking University First HospitalUniversity, hospital or other
- Study start
- 1 May 2024 (actual)
- Primary completion
- 15 Mar 2025 (actual)
- Study completion
- 31 Mar 2025 (actual)
- First posted
- 24 Jun 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 1 Year
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 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). |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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).
Key inclusion criteria (5 listed)
- 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.
Key exclusion criteria (3 listed)
- 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).
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Clinical status of patients with dysferlinopathy (MMT score)
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 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.
North Star assessment for limb girdle-type muscular dystrophies (NSAD) in patients with dysferlinopathy
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
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.
Clinical status of patients with dysferlinopathy (6-minute walk test)
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
The participant will be asked to complete maximal distance in 6 minute as quickly as safely possible and the time in seconds is recorded.
2 secondary outcomes
Muscle MRI in patients with dysferlinopathy
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 )
Time frame: Conducted with informed consent at baseline.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Jun 2025.
- Individual participant dataSharing planned: Undecided
Related trials for Dysferlinopathy
Active, not recruitingObservational study
A Study of the Natural History of Participants With LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, and LGMD2A/R1 ≥ 4 Years of Age, Who Are Managed in Routine Clinical Practice
Limb-girdle Muscular Dystrophy
Enrolling by invitationObservational study
Clinical, Immunological, Morphological and Genetic Characteristics of Patients With Dysferlinopathy (LGMD R2) in the RF
Dysferlinopathy, Miyoshi Myopathy
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Dysferlinopathy, run by Peking University First Hospital at 1 site in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 24 Jun 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Clinical status of patients with dysferlinopathy (MMT score) (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). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Jun 2025.