Looking for gentler ways to track muscular dystrophy using urine, blood and scans
Tests urine, blood and painless muscle scans in people with muscular dystrophy.
Plain-language title generated from the registry record
Registry title: Biomarker Development for Muscular Dystrophies
Key facts
- Where
- Boston, Pittsburgh, and Winston-Salem, United StatesSee the 5 sites
Where in United States
- Brigham and Women's HospitalBoston, United StatesTaking people
- Massachusetts General HospitalBoston, United StatesTaking people
- Boston Children's HospitalBoston, United StatesNo longer taking part
- University of PittsburghPittsburgh, United StatesTaking people
- Wake Forest UniversityWinston-Salem, United StatesTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Massachusetts General Hospital
- Trial code
- NCT05019625
- Record updated
- 29 October 2026
- Original 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.Read full original descriptionShow less
Biomarker Development for Muscular Dystrophies
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.
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; 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: 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.