Remote monitoring and genetic analysis for myotonic dystrophy type 1
REACH DM - Remote Assessments and Genetic Determinants of Myotonic Dystrophy
This project will test if at-home remote tests plus a blood genetic sample can help explain why symptoms differ among adults with myotonic dystrophy type 1.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 1000 (estimated) |
| Ages | 18 Years to 88 Years |
| Sex | All |
| Sponsor | University of Rochester Academic / other |
| Locations | 1 site (Rochester, New York) |
| Trial ID | NCT07505342 on ClinicalTrials.gov |
What this trial studies
This observational study enrolls adults (18–88) with a clinical diagnosis of DM1 and collects remote physiological and functional data from participants' homes using a mailed toolkit and video visits. Investigators will gather information on skeletal and smooth muscle function, cardiac measures, and nervous system findings through virtual assessments and device-based tests. Participants also provide a blood sample so researchers can analyze genetic differences that may relate to symptom variability. No travel to a study site is required, but participants need Wi‑Fi, the ability to consent, and English proficiency.
Who should consider this trial
Good fit: Adults aged 18–88 with a clinical diagnosis of DM1 who speak English, can give informed consent, have Wi‑Fi, and can use mailed devices are ideal candidates.
Not a fit: People without reliable internet or mail access, non‑English speakers, minors, or those seeking experimental treatments are unlikely to receive direct benefit from this observational protocol.
Why it matters
Potential benefit: If successful, the study could improve remote monitoring methods and identify genetic markers that help predict symptom severity and personalize care for people with DM1.
How similar studies have performed: Related remote-monitoring and genetic observational projects in neuromuscular diseases have produced useful natural-history data, but major genetic drivers of DM1 variability remain incompletely defined.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Age 18-88 years * Clinical diagnosis of DM1 * English speaking * Able to provide informed consent * Available wifi
Where this trial is running
Rochester, New York
- University of Rochester — Rochester, New York, United States (Recruiting)
Study contacts
- Principal investigator: Johanna Hamel, MD — University of Rochester
- Study coordinator: Jeanne Dekdebrun
- Email: REACHDM@URMC.rochester.edu
- Phone: 585-275-0420
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.