Identifying RNA biomarkers in myotonic dystrophy using urine and blood samples
Extracellular RNA Biomarkers of Myotonic Dystrophy
This study is testing if analyzing urine and blood samples can help track the activity and severity of myotonic dystrophy in people with the condition.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 215 (estimated) |
| Ages | 5 Years and up |
| Sex | All |
| Sponsor | Massachusetts General Hospital Academic / other |
| Locations | 3 sites (Boston, Massachusetts and 2 other locations) |
| Trial ID | NCT05020002 on ClinicalTrials.gov |
What this trial studies
This observational study aims to explore less invasive methods for assessing myotonic dystrophy by analyzing urine and blood samples instead of traditional muscle biopsies. The researchers will evaluate the presence and levels of extracellular RNA biomarkers to determine the activity and severity of the condition. Participants will include individuals diagnosed with myotonic dystrophy types 1 and 2, as well as control subjects without the disease. The study will involve both single and repeated biofluid collections from participants aged 5 years and older.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 5 years and older with a diagnosis of myotonic dystrophy type 1 or 2, as well as control subjects without muscular dystrophy.
Not a fit: Patients with a history of immunosuppression, coagulopathy, liver or kidney disease, or those who are HIV positive 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 myotonic dystrophy.
How similar studies have performed: Other studies have shown promise in using non-invasive biomarkers for muscular dystrophies, indicating potential success for 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 (DM1, DM2, and non-DM). * Demographic characteristics for repeated measurements: Males and females age 14 years and older with DM1. * Demographic characteristics for biofluid and muscle biopsy: Males and females, ages 18-65 years. 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. Women that are pregnant, or intend to become pregnant, prior to the biopsy; urine pregnancy test that is positive; inability or unwillingness of the subject to give written informed consent. * Other. Inability or unwillingness of the subject to give written informed consent or assent.
Where this trial is running
Boston, Massachusetts and 2 other locations
- Massachusetts General Hospital — Boston, Massachusetts, United States (Recruiting)
- Beth Israel Deaconess Medical Center — Boston, Massachusetts, United States (Recruiting)
- University of Texas Southwestern — Dallas, Texas, 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.