NCT07630389 Remote Assessments and Genetic Determinants of Congenital and Childhood Myotonic Dystrophy
| NCT ID | NCT07630389 |
| Status | Recruiting |
| Phase | — |
| Sponsor | University of Rochester |
| Condition | Myotonic Dystrophy Type 1 |
| Study Type | OBSERVATIONAL |
| Enrollment | 100 participants |
| Start Date | 2023-11-13 |
| Primary Completion | 2030-01-01 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 100 participants in total. It began in 2023-11-13 with a primary completion date of 2030-01-01.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
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. 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.
Eligibility 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
Contact & Investigator
Johanna Hamel, MD
PRINCIPAL INVESTIGATOR
University of Rochester
Frequently Asked Questions
Who can join the NCT07630389 clinical trial?
This trial is open to participants of all sexes, aged 0 Years or older, up to 17 Years, studying Myotonic Dystrophy Type 1. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT07630389 currently recruiting?
Yes, NCT07630389 is actively recruiting participants. Contact the research team at REACHDM@URMC.Rochester.edu for enrollment information.
Where is the NCT07630389 trial being conducted?
This trial is being conducted at Rochester, United States.
Who is sponsoring the NCT07630389 clinical trial?
NCT07630389 is sponsored by University of Rochester. The principal investigator is Johanna Hamel, MD at University of Rochester. The trial plans to enroll 100 participants.