Metabolomic biomarkers for myotonic dystrophy
Official title: Metabolomic Biomarkers of Myotonic Dystrophy
Run by Massachusetts General Hospital · NCT07912983 · Data updated 2026-11-12
This study tests whether urine and blood tests, along with muscle function tests, can detect and measure myotonic dystrophy activity and severity without relying on muscle biopsies.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 14 Years and up |
| Sex | All |
| Enrollment | 64 (estimated) |
| Sponsor | Massachusetts General Hospital Academic / other |
| Locations | 1 site (Boston, Massachusetts) |
| Status | Recruiting |
| Started | October 26, 2026 |
| Main results expected | August 2030 |
| Study ends | August 2031 |
| Registry record updated | November 3, 2026 |
| Trial ID | NCT07912983 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates are individuals 14 years or older with myotonic dystrophy type 1 or without the disease who can provide blood and urine samples and undergo muscle function testing.
✕Probably not a fit
Patients whose disease biology does not correlate with the biomarker signals discovered may not benefit from the findings.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study seeks to identify metabolic biomarkers in blood and urine that reflect disease activity in myotonic dystrophy type 1. Researchers will compare biomarker patterns with functional muscle assessments to see if less invasive tests can indicate disease status. The goal is to reduce the need for muscle biopsies while improving understanding of the disease. Participants include individuals diagnosed with myotonic dystrophy as well as healthy controls aged 14 and older. Exclusion criteria include immunosuppression, coagulopathy, and recent anticoagulant use before blood draws.
Why it matters
Potential benefit: If successful, the study could lead to easier, less invasive ways to monitor disease activity and progression in myotonic dystrophy.
How similar studies have gone: Previous research in other muscular dystrophies has identified metabolomic and biofluid biomarkers, but this exact approach for myotonic dystrophy is exploratory.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * Individuals with myotonic dystrophy * Individuals without myotonic dystrophy * Ages 14 years and older Exclusion Criteria: * State of immunosuppression * Coagulopathy * Use of anticoagulants within 60 days prior to blood draw
Where it's running
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Massachusetts General Hospital
Boston, Massachusetts, United States Recruiting
Study contacts
- Study coordinator: Tamkin Shahraki, MD
- Email: tshahraki@mgh.harvard.edu
- Phone: 617-726-7506
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.