Remote Assessments and Genetic Determinants of Congenital and Childhood Myotonic Dystrophy (REACH-DM KIDS)

REACH DM KIDS: Remote Assessments and Genetic Determinants of Congenital and Childhood Myotonic Dystrophy

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.

Study Overview

• Status: Recruiting
• Conditions: Myotonic Dystrophy Type 1; Congenital DM1; Juvenile DM1; Childhood DM1

• Study Type: Observational
• Enrollment (Estimated): 100

Contacts and Locations

• Study Contact: Name: Jeanne Dekdebrun; Phone Number: 585-275-0420; Email: REACHDM@URMC.Rochester.edu

Study Locations

• United States
  • New York
    • Rochester, New York, United States, 14642
      • Recruiting
      • University of Rochester
      • Principal Investigator: Johanna Hamel, MD
      • Contact: Erin Richardson; Phone Number: 585-275-0420; Email: REACHDM@URMC.rochester.edu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

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

Description

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

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Remote assessment of grip strength	Grip strength will be assessed using a hand held dynamometer (strength measured in kg)	12 months
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 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

Collaborators and Investigators

• Sponsor: University of Rochester
• Investigators: Principal Investigator: Johanna Hamel, MD, University of Rochester; Principal Investigator: Brianna Brun, MD, University of Rochester

Study record dates

Study Major Dates

• Study Start (Actual): November 13, 2023
• Primary Completion (Estimated): January 1, 2030
• Study Completion (Estimated): January 1, 2030

Study Registration Dates

• First Submitted: June 1, 2026
• First Submitted That Met QC Criteria: June 1, 2026
• First Posted (Actual): June 5, 2026

Study Record Updates

• Last Update Posted (Actual): June 5, 2026
• Last Update Submitted That Met QC Criteria: June 1, 2026
• Last Verified: February 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Musculoskeletal Diseases; Nervous System Diseases; Muscular Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Neurodegenerative Diseases; Heredodegenerative Disorders, Nervous System; Muscular Disorders, Atrophic; Muscular Dystrophies; Myotonic Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Myotonic Dystrophy
• Other Study ID Numbers: STUDY00008307

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: Aggregated and deidentified data will be shared with qualified investigators.

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No