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Remote Assessments and Genetic Determinants of Congenital and Childhood Myotonic Dystrophy

NCT07630389 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 100

Last updated 2026-06-05

No results posted yet for this study

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.

Conditions

Sponsors & Collaborators

  • University of Rochester

    lead OTHER

Principal Investigators

  • Johanna Hamel, MD · University of Rochester

  • Brianna Brun, MD · University of Rochester

Eligibility

Min Age
0 Years
Max Age
17 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2023-11-13
Primary Completion
2030-01-01
Completion
2030-01-01

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07630389 on ClinicalTrials.gov