Biomarker Development for Muscular Dystrophies

Current methods of measuring the response to new treatments for muscular dystrophies involve the examination of small pieces of muscle tissue called biopsies. The investigators are interested in finding less invasive methods that reduce the need for muscle biopsies. The purpose of this research is to learn about the possibility of detecting and measuring the activity and severity of muscular dystrophies by examining a urine sample and a blood sample, and some muscles in the arms and legs using tests called ultrasound and electrical impedance myography; both tests are painless and non-invasive. The information that is gathered from this study may help to evaluate, prevent, diagnose, treat, and improve the understanding of human muscle diseases.

Recruiting

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Key information

Conditions

Myotonic Dystrophy Becker Muscular Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities Duchenne Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy Genetic Diseases, Inborn Genetic Diseases, X-Linked Heredodegenerative Disorders, Nervous System Muscular Diseases Muscular Disorders, Atrophic Muscular Dystrophies Muscular Dystrophy, Duchenne Muscular Dystrophy, Facioscapulohumeral Musculoskeletal Diseases Myotonic Disorders Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases

Age range

5 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Boston Children's Hospital, Boston, Massachusetts, United States

Who can participate

Healthy volunteers accepted: Yes

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

Inclusion criteria

Subjects with DM1 or DM2 based on genetic testing and/or clinical criteria (some subjects who have positive genetic testing may be asymptomatic, while other subjects who show characteristic clinical features may have declined to have genetic testing done). Control non-DM subjects are unknown to have DM or any other muscular dystrophy by history and may have had no genetic testing.
Able to provide informed consent or assent for participation in the study.
Demographic characteristics for single biofluid collection: Males and females age 5 years and older.
Demographic characteristics for serial biofluid and muscle function testing: Males and females age 14 years and older with DM1.
Demographic characteristics for biofluid and muscle biopsy: Males and females, ages 18-65 years.

Demographic characteristics for single biofluid collection, ultrasound, and myography: Males and females age 14 years and older.

Exclusion criteria

Medical history of any of the following. State of immunosuppression; coagulopathy; pre-existing liver or kidney disease; documented HIV positive; documented hepatitis B and/or C positive.
Medications and other drugs. Use of anti-platelet drugs within 7 days prior to blood draw or biopsy; use of anticoagulants within 60 days prior to blood draw or biopsy; active drug or alcohol use or dependence that, in the opinion of the biopsy surgeon, would interfere with post-procedure wound care.
Other. Inability or unwillingness of the subject to give written informed consent.

Treatment and study plan

Primary outcomes

Extracellular RNA in biofluids

Time frame: 6 years

The extracellular RNA biomarkers in the muscular dystrophy groups will be evaluated and compared with the extracellular RNA content in control groups. Statistical analysis will be used to evaluate the sensitivity and specificity of these markers as measurements of disease activity and severity based on clinical measurements of muscle power, electrocardiogram parameters, pulmonary function test parameters, muscle tissue composition using quantitative ultrasound and electrical impedance myography, and muscle tissue specimens.

Study contacts

Contact information is provided by the study sponsor or research team.

Tamkin Shahraki, MD

CONTACT

[email protected]

617-726-7506

Sponsors and collaborators

Lead sponsor

Massachusetts General Hospital

Other

Collaborators

Boston Children's Hospital
Brigham and Women's Hospital
University of Pittsburgh
Wake Forest University

Registry information

Important dates

Study start: 2015
Primary completion: 2027
Study completion: 2028
First posted: Aug 25, 2021
Registry last updated: Nov 24, 2025

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.

Completed