Extracellular RNA Biomarkers of Myotonic Dystrophy

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Brief Title

Extracellular RNA Biomarkers of Myotonic Dystrophy

Official Title

Extracellular RNA Biomarkers of Myotonic Dystrophy

Brief Summary

      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.

Study Type


Primary Outcome

Extracellular RNA splice variants in biofluids


Myotonic Dystrophy

Study Arms / Comparison Groups

 Single biofluid collection
Description:  We will ask eligible volunteers to provide a single urine sample and undergo a single blood draw.


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Estimated Enrollment


Start Date

December 8, 2020

Completion Date

December 2024

Primary Completion Date

December 2023

Eligibility Criteria

        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 (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 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. 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




5 Years - N/A

Accepts Healthy Volunteers

Accepts Healthy Volunteers


Thurman M. Wheeler, MD, 617-726-7506, [email protected]

Location Countries

United States

Location Countries

United States

Administrative Informations



Organization ID


Responsible Party

Principal Investigator

Study Sponsor

Massachusetts General Hospital


 Beth Israel Deaconess Medical Center

Study Sponsor

Thurman M. Wheeler, MD, Principal Investigator, Massachusetts General Hospital

Verification Date

August 2021