Extracellular RNA Biomarkers of Duchenne Muscular Dystrophy

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.

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Key information

Conditions

Duchenne Muscular Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Genetic Diseases, X-Linked Muscular Diseases Muscular Disorders, Atrophic Muscular Dystrophies Muscular Dystrophy, Duchenne Musculoskeletal Diseases Nervous System 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

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

Inclusion criteria

Subjects with DMD or BMD based on genetic testing. Control subjects are unknown to have 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 biofluid collection: Males age 5 years and older with DMD or BMD; males and females ages 18 years and older without muscular dystrophy.

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.
Use of anti-platelet drugs within 7 days prior to blood draw; use of anticoagulants within 60 days prior to blood draw.
Inability or unwillingness of the subject to give written informed consent.

Treatment and study plan

Primary outcomes

Extracellular RNA in biofluids

Time frame: 4 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.

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Sponsors and collaborators

Lead sponsor

Massachusetts General Hospital

Other

Collaborators

Boston Children's Hospital

Registry information

Important dates

Study start: 2019
Primary completion: 2026
Study completion: 2027
First posted: Aug 23, 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.

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