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Skeletal Muscle Biomarkers in People With Fragile Sarcolemmal Muscular Dystrophy

NCT01851447 · Status: ACTIVE_NOT_RECRUITING · Type: OBSERVATIONAL · Enrollment: 11

Last updated 2026-03-31

No results posted yet for this study

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

Sponsors & Collaborators

  • National Institute of Neurological Disorders and Stroke (NINDS)

    collaborator NIH

  • National Institutes of Health Clinical Center (CC)

    collaborator NIH

  • University of Massachusetts, Worcester

    collaborator OTHER

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

    lead NIH

Principal Investigators

  • Joshua J Zimmerberg, M.D. · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Eligibility

Min Age
18 Years
Max Age
99 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2014-11-03
Primary Completion
2026-12-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01851447 on ClinicalTrials.gov