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Extracellular RNA Biomarkers for Myotonic Dystrophy

This study is looking for less invasive ways to understand myotonic dystrophy (DM1 or DM2), a type of muscular dystrophy. Currently, doctors often need to take muscle biopsies (small tissue samples) to see how treatments are working. This research hopes to find out if examining urine and blood samples can help detect and measure the activity and severity of myotonic dystrophy instead. The main goal is to see if specific extracellular RNA splice variants (tiny genetic markers) can be found in these body fluids. You may be able to join if you have DM1 or DM2, confirmed by genetic testing or clinical signs, or if you are a healthy control without muscular dystrophy. The study is currently unclear about its recruitment status.

Study design
This is an observational study aiming to enroll 215 participants. It is not testing a specific drug or intervention.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
The primary endpoint, measuring extracellular RNA splice variants, will be assessed at 4 years.

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NCT05020002

Extracellular RNA Biomarkers of Myotonic Dystrophy

Recruiting
Not specifiedAges 5+Observational
Massachusetts General Hospital
~215 participants
Updated 2025-11-24 on ClinicalTrials.gov

At a glance

Recruiting sites
3 of 3 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Extracellular RNA splice variants in biofluids
Measured over 4 years

Conditions

Myotonic Dystrophy

Explore related trials

Myotonic Dystrophy

Where it's being run

3 sites across 2 states
Massachusetts2
Texas1

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 (DM1, DM2, and non-DM).
Demographic characteristics for repeated measurements: 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. Women that are pregnant, or intend to become pregnant, prior to the biopsy; urine pregnancy test that is positive; inability or unwillingness of the subject to give written informed consent.
Other. Inability or unwillingness of the subject to give written informed consent or assent.

What this trial measures

  • Extracellular RNA splice variants in biofluids4 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.