Developing new biomarkers for muscular dystrophies
Biomarker Development for Muscular Dystrophies
This study is trying to find easier and less painful ways to measure how serious muscular dystrophies are by looking at urine and blood samples and using simple tests, to help improve diagnosis and treatment for people with these conditions.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 465 (estimated) |
| Ages | 5 Years and up |
| Sex | All |
| Sponsor | Massachusetts General Hospital Academic / other |
| Locations | 5 sites (Boston, Massachusetts and 4 other locations) |
| Trial ID | NCT05019625 on ClinicalTrials.gov |
What this trial studies
This observational study aims to identify less invasive methods for measuring the activity and severity of muscular dystrophies, such as Myotonic Dystrophy and Duchenne Muscular Dystrophy. Researchers will analyze urine and blood samples, as well as perform painless tests like ultrasound and electrical impedance myography on participants. The goal is to reduce reliance on muscle biopsies while improving the evaluation, diagnosis, and treatment of these conditions. By gathering this information, the study seeks to enhance the understanding of human muscle diseases.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 5 years and older with confirmed or suspected muscular dystrophies, as well as healthy controls.
Not a fit: Patients with other unrelated medical conditions or those outside the specified age range may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to more accessible and less invasive diagnostic methods for patients with muscular dystrophies.
How similar studies have performed: Other studies exploring non-invasive biomarkers for muscular dystrophies have shown promise, indicating potential for success in this approach.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
Boston, Massachusetts and 4 other locations
- Boston Children's Hospital — Boston, Massachusetts, United States (Active_not_recruiting)
- Brigham and Women's Hospital — Boston, Massachusetts, United States (Recruiting)
- Massachusetts General Hospital — Boston, Massachusetts, United States (Recruiting)
- Wake Forest University — Winston-Salem, North Carolina, United States (Recruiting)
- University of Pittsburgh — Pittsburgh, Pennsylvania, United States (Recruiting)
Study contacts
- Principal investigator: Thurman M. Wheeler, MD — Massachusetts General Hospital
- Study coordinator: Tamkin Shahraki, MD
- Email: tshahraki@mgh.harvard.edu
- Phone: 617-726-7506
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.