Remote Assessments and Genetic Factors in Congenital and Childhood DM1
Official title: REACH DM KIDS: Remote Assessments and Genetic Determinants of Congenital and Childhood Myotonic Dystrophy
Run by University of Rochester · NCT07630389 · Data updated 2026-11-12
This study tests how congenital, childhood, and juvenile DM1 affect kids by doing remote visits, activities, and a small blood sample to explore symptoms and genetics.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 0 Years to 17 Years |
| Sex | All |
| Enrollment | 100 (estimated) |
| Sponsor | University of Rochester Academic / other |
| Locations | 1 site (Rochester, New York) |
| Status | Recruiting |
| Started | November 13, 2023 |
| Main results expected | January 1, 2030 |
| Study ends | January 1, 2030 |
| Registry record updated | June 5, 2026 |
| Trial ID | NCT07630389 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Children and adolescents ages 0 to 17 with a clinical diagnosis of congenital, childhood, or juvenile DM1, English-speaking, with caregiver support and internet access.
✕Probably not a fit
Individuals who do not have DM1, are outside the age range, or lack family support or reliable internet may not benefit.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This is an observational study conducted in participants' homes using video calls and home-based tools to evaluate how DM1 affects muscles, heart, and brain in children. Families receive an iPad and equipment to perform simple movement and function tasks during virtual visits. After visits, a small blood sample may be collected locally or at home to explore genetic factors. The study aims to understand variability in disease presentation among children and how it differs from adults. Participation requires internet access and caregiver involvement, with assent from the child when appropriate.
Why it matters
Potential benefit: Findings could improve understanding of how DM1 presents in children and guide future personalized care and research.
How similar studies have gone: Previous pediatric DM1 studies have faced enrollment challenges, but remote/telehealth approaches show promise for broader participation.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * Age 0-17 years * Clinical diagnosis of congenital, childhood, or juvenile DM1 * English speaking * Parent or guardian willing to assist and provide consent for participation * If appropriate based on age and developmental level, child willing to provide assent for their own participation * Available wifi Exclusion Criteria: * Presence of any other non-DM1 illness or disease (e.g. other neuromuscular disorder, cerebral palsy, or other genetic or acquired disorder affecting the central or peripheral nervous system) that could interfere with study results in the opinion of the site investigator * Significant recent trauma or injury prior to the RSV that could affect functional assessment
Where it's running
-
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
Similar studies
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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.