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Biomarker Development for Muscular Dystrophies

RecruitingObservational studyHealthy volunteers welcome

Who can join

Ages 5 and older · All sexes · Healthy volunteers welcome

Full 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.
* 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.

Demographic characteristics for single biofluid collection, ultrasound, and myography: Males and females age 14 years and older.

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. Inability or unwillingness of the subject to give written informed consent.

About the study

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.

Sponsor: Massachusetts General Hospital · Participants: 465 · Started: Feb 20, 2015

Contact the study team

Official record on ClinicalTrials.gov — NCT05019625

Locations in the U.S.

MassachusettsBrigham and Women's Hospital, Boston
Massachusetts General Hospital, Boston
North CarolinaWake Forest University, Winston-Salem
PennsylvaniaUniversity of Pittsburgh, Pittsburgh

Conditions

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.