Remote Assessments and Genetic Determinants of Congenital and Childhood Myotonic Dystrophy

Part of paid clinical trials in Rochester, New York.

Sponsor
University of Rochester
Study ID
NCT07630389
Status
Recruiting
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Conditions

  • Childhood DM1
  • Congenital DM1
  • Juvenile DM1
  • Myotonic Dystrophy Type 1

Eligibility Criteria

Sex
ALL
Age
0 Years - 17 Years
Healthy Volunteers
Not accepted

Study Details

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.

Key Dates

Start date
Nov 13, 2023
Status verified
Feb 2026
Primary completion
Jan 1, 2030
Completion
Jan 1, 2030

Study Design

Enrollment
100 participants (estimated)

Primary Outcome Measure

Remote assessment of cognitive function [ Time Frame: 12 months ]

Central Contacts

Locations (1)

FacilityCityStateZIP
University of RochesterRochesterNew York14642

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By research site
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