Remote Assessments and Genetic Determinants of Congenital and Childhood Myotonic Dystrophy

NCT07630389 | Recruiting

• 1 other identifier: STUDY00008307
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

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.

Conditions

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

Outcome Measures

Primary Outcomes (6)

• Remote assessment of cognitive function

  Participants will complete tests of memory, paying attention, and mental functioning. This will involve answering questions or performing tasks on the iPad lasting less than 10 minutes. Parents or guardians will also complete surveys and an interview about their child's development, learning, and behaviors.

  12 months

• Remote assessment of grip strength

  Grip strength will be assessed using a hand held dynamometer (strength measured in kg)

  12 months

• Remote assessment of Video Hand Opening Time (VHOT)

  The participant will be asked to open their hand as quickly as possible after maintaining a fully fisted position for 3 seconds. This assessment will be video recorded for scoring.

  12 months

• 10 Meter Walk/Run Test

  From standing, the participant is asked to ambulate 10 meters as quickly as possible. Ankle braces and orthotics may be used. This assessment will be video recorded for scoring.

  12 months

• Genetic Test

  Participants will have their blood drawn in a lab in their community and ship it to us using a pre-paid shipping label. If not able, a home blood draw kit will be provided. DNA will be extracted from the blood and the CTG repeat length will be determined. If a participant chooses to, they will receive a letter with their research genetic test result.

  At baseline

• Remote assessment of activity

  Participants will wear an activity monitor for 7 days. One device is worn on the wrist like a watch and the other on the waistband of participant's pants.

  12 months

Eligibility Criteria

• Age: 0 Years - 17 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Myotonic dystrophy DM1 between the ages of 0-17 years old

You may qualify if:

• 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 may not qualify if:

• 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

Sponsors & Collaborators

• University of Rochester: lead

Study Sites (1)

University of Rochester

Rochester, New York, 14642, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Biospecimen Description: Blood samples will be used for genetic testing (DNA testing) and to identify biomarkers.

MeSH Terms

Conditions

Myotonic Dystrophy

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Myotonic Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Johanna Hamel, MD

  University of Rochester

  PRINCIPAL INVESTIGATOR

• Brianna Brun, MD

  University of Rochester

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Jeanne Dekdebrun

CONTACT

585-275-0420; REACHDM@URMC.Rochester.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor of Neurology, Pathology and Laboratory Medicine

Study Record Dates

• First Submitted: June 1, 2026
• First Posted: June 5, 2026
• Study Start: November 13, 2023
• Primary Completion (Estimated): January 1, 2030
• Study Completion (Estimated): January 1, 2030
• Last Updated: June 5, 2026

Record last verified: 2026-02

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)