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Protocol Details

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

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Institute of Child Health and Human Development (NICHD)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 18
Max Age: N/A

Referral Letter Required


Population Exclusion(s)


Special Instructions

Currently Not Provided


Inflammatory Cytokines;
Predictors of Outcome

Recruitment Keyword(s)



Genetic Disorder

Investigational Drug(s)


Investigational Device(s)




Supporting Site

National Institute of Child Health and Human DevelopmentNational Institute of Neurological Disorders and StrokeNIH Clinical CenterUniversity of Massachusetts Medical School


- 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.


- To study biomarkers that may affect the muscles of people with fragile sarcolemmal muscular dystrophy.


- Individuals at least 18 years of age with fragile sarcolemmal muscular dystrophy.


- 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.

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-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


-Fail to meet the above inclusion criteria

-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

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Bansal D, Campbell KP. Dysferlin and the plasma membrane repair in muscular dystrophy. Trends Cell Biol. 2004 Apr;14(4):206-13. Review.

Cohn RD, Campbell KP. Molecular basis of muscular dystrophies. Muscle Nerve. 2000 Oct;23(10):1456-71. Review.

Wallace GQ, McNally EM. Mechanisms of muscle degeneration, regeneration, and repair in the muscular dystrophies. Annu Rev Physiol. 2009;71:37-57. doi: 10.1146/annurev.physiol.010908.163216. Review.

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Principal Investigator

Referral Contact

For more information:

Joshua J. Zimmerberg, M.D.
National Institute of Child Health and Human Development (NICHD)
National Institutes of Health
Building 10
Room 10D14
10 Center Drive
Bethesda, Maryland 20892
(301) 496-6571

Joshua J. Zimmerberg, M.D.
National Institute of Child Health and Human Development (NICHD)
National Institutes of Health
Building 10
Room 10D14
10 Center Drive
Bethesda, Maryland 20892
(301) 496-6571

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Clinical Trials Number:


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