Skeletal Muscle Biomarkers in People With Fragile Sarcolemmal Muscular Dystrophy

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.

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Key information

Conditions

Genetic Disorder Behavior Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Motor Activity

Age range

18 year–99 year

Sex eligibility

All sexes

Study type

Observational

Primary location

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

About this study

Objectives: the aim of this protocol is to identify biomarker and clinical correlates of changes in the barrier function of skeletal muscle membrane (i.e. cell membrane permeability) before and after routine motor function testing in patients with one of the Fragile Sarcolemmal Muscular Dystrophies (FSMD).

Study population: patients with early adulthood or later onset of a FSMD (LGMD2B-F, I, L, MM, BMD, and MMD3).

Study Phase: pilot study. Outcome measures: increased change in baseline levels of proteins that are released into the blood from damaged skeletal muscle, such as Creatine Kinase (CK), Lactate Dehydrogenase (LDH), Aspartate Aminotransferase (AST), Alanine Aminotransferase (ALT), troponins, and myoglobin in plasma, changes in inflammation markers, circulating microRNAs and imaging studies to identify effective biomarkers for use in future clinical trials.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

changes in biomarker levels

Time frame: early in the morning, before and after morning activities

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

Time frame: after physical exercise, strength test under guidance of physical therapist

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

Sponsors and collaborators

Lead sponsor

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

Nih

Collaborators

National Institute of Neurological Disorders and Stroke (NINDS)
National Institutes of Health Clinical Center (CC)
University of Massachusetts, Worcester

Registry information

Official study title

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

Important dates

Study start: 2014
Primary completion: 2026
First posted: May 10, 2013
Registry last updated: Jul 30, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

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