Skeletal Muscle Biomarkers in People With Fragile Sarcolemmal Muscular Dystrophy

NCT01851447 | Active Not Recruiting

• 2 other identifiers: 13011213-CH-0112
• Study Type: observational
• Target: 11
• Locations: 1 country
• Sites: 1

Brief Summary

Background: \- 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.

Conditions

Genetic Disorder

Keywords

Membrane Wound; Inflammatory Cytokines; Exercise; Plasma Membrane Repair; Predictors of Outcome; Natural History

Outcome Measures

Primary Outcomes (2)

• changes in biomarker levels

  biomarker levels (CK, ALT, AST...) increases

  early in the morning, before and after morning activities

• changes in biomarker levels

  biomarker levels (CK, ALT, AST...) increase

  after physical exercise, strength test under guidance of physical therapist

Study Arms (1)

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)

Eligibility Criteria

• Age: 18 Years - 99 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

11 patients, 18 years or older with early adulthood or later onset of a genetically diagnosed FSMD will be enrolled in this study. We estimate no more than 50 patients to be eligible for enrollment. This pilot study will accept a maximum of 11 patients.

You may qualify if:

• Aged 18 or older
• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• University of Massachusetts, Worcester: collaborator
• National Institutes of Health Clinical Center (CC): collaborator
• National Institute of Neurological Disorders and Stroke (NINDS): collaborator
• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Genetic Diseases, Inborn; Motor Activity

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Behavior

Study Officials

• Joshua J Zimmerberg, M.D.

  Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 9, 2013
• First Posted: May 10, 2013
• Study Start: November 3, 2014
• Primary Completion (Estimated): December 31, 2026
• Last Updated: June 8, 2026

Record last verified: 2025-07-16

Locations

US (1)