Extracellular RNA Biomarkers of Myotonic Dystrophy

Description

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.

Conditions

Myotonic Dystrophy

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Study Overview

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Study Details

Study overview

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.

Extracellular RNA Biomarkers of Myotonic Dystrophy

Extracellular RNA Biomarkers of Myotonic Dystrophy

Condition
Myotonic Dystrophy
Intervention / Treatment

-

Contacts and Locations

Boston

Massachusetts General Hospital, Boston, Massachusetts, United States, 02129

Boston

Beth Israel Deaconess Medical Center, Boston, Massachusetts, United States, 02215

Dallas

University of Texas Southwestern, Dallas, Texas, United States, 75390

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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.
  • * 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.

Ages Eligible for Study

5 Years to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

Yes

Collaborators and Investigators

Massachusetts General Hospital,

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

Study Record Dates

2025-12