Biomarker Development for Muscular Dystrophies

Launched by MASSACHUSETTS GENERAL HOSPITAL · Aug 20, 2021

Keywords

ClinConnect Summary

This clinical trial focuses on developing new ways to understand and measure muscular dystrophies, such as Myotonic Dystrophy and Duchenne Muscular Dystrophy, without needing painful muscle biopsies. Researchers are exploring whether they can use urine and blood samples, along with non-invasive tests like ultrasound and electrical impedance myography (which check muscle health without discomfort), to gather important information about the severity and activity of these conditions. This research aims to improve how we evaluate, diagnose, and treat muscle diseases.

To participate, individuals aged 5 and older with certain types of muscular dystrophies, or those who do not have these conditions, may be eligible. Participants should be able to give their consent or assent to join the study. Throughout the trial, they can expect to provide samples and undergo safe, painless tests to help advance our understanding of muscular dystrophies. It’s important to note that some medical conditions or medications may prevent someone from participating, so potential participants should discuss their health history with the study team.

Gender

ALL

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.