Actively Recruiting
REACH DM KIDS: Remote Assessments and Genetic Determinants of Congenital and Childhood Myotonic Dystrophy
Led by University of Rochester · Updated on 2026-06-05
100
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Myotonic dystrophy type 1 (DM1) affects children in different and often more severe ways compared to adults. Symptoms can vary even within the same family. Because previous studies included only a small number of children, this research aims to better understand the differences in symptoms and their causes in children with congenital, childhood, or juvenile DM1. This observational study is conducted remotely using video calls, so families do not need to travel. Researchers will send families an iPad and necessary tools to participate from home. During video visits, children will perform simple activities to assess muscle, heart, and brain function, with help from parents or guardians when needed. After the video assessment, a small blood sample will be collected either at home or a local lab to analyze genetic factors related to symptoms. Parents can choose to receive their child's genetic test results. Participants will take part in activities that assess cognitive function, grip strength, hand movement speed, walking/running ability, and overall activity over 12 months using remote methods. The study will also collect genetic data at the start. The total involvement includes video assessments, blood sample collection, and ongoing remote monitoring to better understand how DM1 affects children. The study is sponsored by the University of Rochester and runs through January 2030.
CONDITIONS
Brief Title
Remote Assessments and Genetic Determinants of Congenital and Childhood Myotonic Dystrophy
Who Can Participate
Eligibility Criteria
You may qualify if you...
- 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
You will not qualify if you...
- 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
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (remote)
Duration - At baseline
Participants undergo baseline genetic testing to assess genetic determinants of congenital and childhood myotonic dystrophy.
1 remote assessment
Duration - 12 months
Participants are remotely monitored over 12 months to assess cognitive function, grip strength, hand movement, walking/running ability, and activity levels.
Regular remote assessments over 12 months
Trial Site Locations
Total: 1 location
1
University of Rochester
Rochester, New York, United States, 14642
Actively Recruiting
Research Team
J
Jeanne Dekdebrun
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
Similar Trials
Frequently Asked Questions
Have more questions? Get in touch with our team for quick support
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here