Active — Not RecruitingNot Applicable

Skeletal Muscle Biomarkers in People With Fragile Sarcolemmal Muscular Dystrophy

United States11 participantsStarted 2014-11-03

Plain-language 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.

Who can participate

Age range

18 Years – 99 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

* INCLUSION CRITERIA: * 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 EXCLUSION CRITERIA: * 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

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

changes in biomarker levels

Timeframe: early in the morning, before and after morning activities

changes in biomarker levels

Timeframe: after physical exercise, strength test under guidance of physical therapist

Trial details

NCT IDNCT01851447

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

Sponsor typeNIH

Study typeOBSERVATIONAL

Primary completion2026-12-31

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