Pilot Study to Assess Biomarkers of Changes in Barrier Function of Skeletal Muscle in Patients With a Fragile Sarcolemmal Muscular Dystrophy

Status: Active, not recruiting
Location: See location...
Study Type: Observational

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.

Participation Requirements
Sex: All
Minimum Age: 18
Healthy Volunteers: No

• 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

United States
National Institutes of Health Clinical Center
Time Frame
Start Date: November 3, 2014
Estimated Completion Date: December 31, 2023
Target number of participants: 11
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)
Joshua J Zimmerberg
Related Therapeutic Areas
Collaborators: National Institute of Neurological Disorders and Stroke (NINDS), University of Massachusetts, Worcester, National Institutes of Health Clinical Center (CC)
Leads: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

This content was sourced from clinicaltrials.gov

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