Skeletal Muscle Biomarkers in People With Fragile Sarcolemmal Muscular Dystrophy
NCT ID: NCT01851447
Last Updated: 2025-12-26
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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ACTIVE_NOT_RECRUITING
11 participants
OBSERVATIONAL
2014-11-03
Brief Summary
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\- Some kinds of muscular dystrophy affect the skeletal muscle membrane. In these conditions, the muscle membrane is more fragile. This affects how the muscles contract and relax, which causes movement problems. Researchers are looking at several muscle enzymes, or chemicals that affect how muscle cells function. By studying changes in these enzymes, they may be able to better understand how muscular dystrophy affects the cells. Researchers want to collect biomarkers (chemicals from blood samples) from people with fragile sarcolemmal muscular dystrophy. This information may provide better treatments for this condition.
Objectives:
\- To study biomarkers that may affect the muscles of people with fragile sarcolemmal muscular dystrophy.
Eligibility:
\- Individuals at least 18 years of age with fragile sarcolemmal muscular dystrophy.
Design:
* Participants will be screened with a medical history and physical exam.
* Participants will be asked to come for four visits to the National Institutes of Health Clinical Center. The visits will be at least 2 months apart. Each visit will require participants to stay for 5 days at the clinical center.
* During each visit, participants will provide frequent small blood samples. These samples will be collected while at rest and after physical exercise.
* Participants will also have a physical therapy assessment. They will perform standard motor function tests and imaging tests (MRI, MRS). These tests may take up to 1 hour each time.
* Treatment will not be provided as part of this study.
Detailed Description
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Study population: patients with early adulthood or later onset of a FSMD (LGMD2B-F, I, L, MM, BMD, and MMD3).
Study Phase: pilot study. Outcome measures: increased change in baseline levels of proteins that are released into the blood from damaged skeletal muscle, such as Creatine Kinase (CK), Lactate Dehydrogenase (LDH), Aspartate Aminotransferase (AST), Alanine Aminotransferase (ALT), troponins, and myoglobin in plasma, changes in inflammation markers, circulating microRNAs and imaging studies to identify effective biomarkers for use in future clinical trials.
Conditions
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Keywords
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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Fragile Sarcolemmal Muscular Dystrophy
patients with early adulthood or late onset of a genetic disorder FSMD (LGMD 2B-F, I, L, MM, BMD and MMD3)
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
* Have a confirmed genetic diagnosis of one of the FSMDs or have a clinical phenotype consistent with one of the FSMDs
* Be able to travel to the NIH Clinical Center at the NIH for studies
* Able to commit to multiple 5 day stays at the NIH Clinical Center
* Established primary care physician
* Ambulant: able to walk 10 meters or 33 feet without walking aids or orthotics
* Are unable or unwilling to be examined
* Adults unable to provide their own consent
* Have active, on-going medical problems such as (e.g. diabetes, hypothyroidism, pancreatitis, anemia, cancer, renal, hepatic, pulmonary or cardiac disease) or who have undergone recent surgery (i.e. less than 8 days post-surgery)
* Pregnant females
* Currently taking any or a combination of anti-inflammatory drugs, statins or other drugs with known myotoxicity, narcotics
18 Years
99 Years
ALL
No
Sponsors
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National Institute of Neurological Disorders and Stroke (NINDS)
NIH
National Institutes of Health Clinical Center (CC)
NIH
University of Massachusetts, Worcester
OTHER
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Responsible Party
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Principal Investigators
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Joshua J Zimmerberg, M.D.
Role: PRINCIPAL_INVESTIGATOR
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Locations
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National Institutes of Health Clinical Center
Bethesda, Maryland, United States
Countries
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Related Links
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NIH Clinical Center Detailed Web Page
Other Identifiers
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13-CH-0112
Identifier Type: -
Identifier Source: secondary_id
130112
Identifier Type: -
Identifier Source: org_study_id