Biomarker Development for Muscular Dystrophies

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, and some muscles in the arms and legs using tests called ultrasound and electrical impedance myography; both tests are painless and non-invasive. The information that is gathered from this study may help to evaluate, prevent, diagnose, treat, and improve the understanding of human muscle diseases.

Conditions

Myotonic Dystrophy, Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Facioscapulohumeral Muscular 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, and some muscles in the arms and legs using tests called ultrasound and electrical impedance myography; both tests are painless and non-invasive. The information that is gathered from this study may help to evaluate, prevent, diagnose, treat, and improve the understanding of human muscle diseases.

Biomarker Development for Muscular Dystrophies

Biomarker Development for Muscular Dystrophies

Condition
Myotonic Dystrophy
Intervention / Treatment

-

Contacts and Locations

Boston

Boston Children's Hospital, Boston, Massachusetts, United States, 02115

Boston

Brigham and Women's Hospital, Boston, Massachusetts, United States, 02115

Boston

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

Winston-Salem

Wake Forest University, Winston-Salem, North Carolina, United States, 27157

Pittsburgh

University of Pittsburgh, Pittsburgh, Pennsylvania, United States, 15213

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.
  • * 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.
  • * 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.

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

2027-06