Biomarker Development for Muscular Dystrophies

This study is looking for better ways to measure muscular dystrophy activity and severity without needing muscle biopsies. Researchers want to see if they can use urine and blood samples, along with painless tests like ultrasound and electrical impedance myography (which measures electrical signals in muscles), to understand these conditions. The study is open to people with Myotonic Dystrophy, Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, or Facioscapulohumeral Muscular Dystrophy, aged 5 years and older. The main goal is to measure extracellular RNA (genetic material outside of cells) in body fluids over 6 years. This research aims to improve how we evaluate, prevent, diagnose, and treat muscle diseases. The current status of this study is unclear.

Study design: This is an observational study, meaning participants will be monitored without receiving any specific intervention. The study plans to enroll 465 participants.
What's involved: Participants will provide urine and blood samples, and have their arm and leg muscles examined using ultrasound and electrical impedance myography.
Compensation: Not stated in the trial record.
Follow-up: Participants will be followed for 6 years to measure extracellular RNA in their biofluids.

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Biomarker Development for Muscular Dystrophies

Recruiting

Not specifiedAges 5+Observational

Massachusetts General Hospital

~465 participants

Updated 2025-11-24 on ClinicalTrials.gov

At a glance

Recruiting sites

4 of 5 listed sites are recruiting right now

RecruitingSuspended, closed, or not yet open

What they're measuring

Extracellular RNA in biofluids

Measured over 6 years

Conditions

Myotonic Dystrophy

Duchenne Muscular Dystrophy

Becker Muscular Dystrophy

Facioscapulohumeral Muscular Dystrophy

Where it's being run

5 sites across 3 states

Massachusetts3

North Carolina1

Pennsylvania1

Study leadership

Thurman M. Wheeler, MD · PRINCIPAL_INVESTIGATOR · Massachusetts General Hospital

Who to contact

Tamkin Shahraki, MD

[email protected]

617-726-7506

Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

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.

Exclusion

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.

What this trial measures

Extracellular RNA in biofluids6 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.

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