Remote Assessments and Genetic Determinants of Congenital and Childhood Myotonic Dystrophy
Key facts
- Who runs it
- University of Rochester
- Where
- Rochester, United StatesSee the site
- Trial code
- Status
- Recruiting
- People taking part
- 100 people, planned
- Started
- 13 Nov 2023
- Expected to end
- 1 Jan 2030
- Type of study
- Observational
- Record updated
- 5 June 2026
Who can take part
- Age
- 0 years to 17 years
- Sex
- Women and men
- Healthy volunteers
- Cannot take part
The registry criteria, word for word
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Who can take part
- 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
Who cannot take part
- Significant recent trauma or injury prior to the RSV that could affect functional assessment
- 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
Check if you might fit
Answer for yourself. This is not a decision: only the study team can say whether you can take part.
- Are you between 0 and 17 years old?
Where in United States
- University of RochesterRochester, United StatesContact: Erin RichardsonTaking people
About the trial
What the trial wants to find out
Myotonic dystrophy type 1 (DM1) can affect people in many different ways, even in the same family. The symptoms that children experience can be different and more severe than adults. Prior studies in children have been limited because only a small number of children could participate. In this study, we hope to learn more about these differences and what causes them.
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This is an observational study conducted in participants' homes and does not require travel. Instead, we will use video calls to talk with children and their parents/guardians about DM1 symptoms and how it affects the child's muscles, heart, and brain. We'll send families an iPad and the other tools they need for the study. During the video call, kids will do some simple activities to see how their body moves and functions. Parents/guardians might need to help their child with some of these activities.
After the video visit, we'll get a small blood sample from the child. This can be done at a local lab or even at home. We'll then look at the child's genes in the blood sample to understand how they might be linked to their symptoms. Parents/guardians can chose to have their child's genetic test result returned to them.
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorData and sources
- Registry record
- Listed on ClinicalTrials.gov.
- Official title
- REACH DM KIDS: Remote Assessments and Genetic Determinants of Congenital and Childhood Myotonic Dystrophy
- Fit questions
- Built from NCT07630389, who can take part
- Record updated
- 5 June 2026