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

REACH DM - Remote Assessments and Genetic Determinants of Myotonic Dystrophy

The goal of this observational study, conducted in participants' homes and requiring no travel to a study site, is to better understand disease variability in people with myotonic dystrophy type 1 (DM1) and to identify effective ways to measure symptoms.

Myotonic dystrophy is one of the most variable diseases. Some people develop symptoms when they are young, others when they are much older. In the same family, some people may have mild problems, while others are strongly affected. The goal of this study is to find out more about what is causing these differences. To accomplish this, investigators will study the effects of DM1 on skeletal and smooth muscles, the heart, and the nervous system. Then, investigators will evaluate genetic differences with a blood sample.

• Participants will receive a toolkit in the mail which includes all necessary equipment to participate in the study, including an iPad with video conferencing software.
• Then the study team will connect with participants via videoconferencing for medical interview about DM1 symptoms and functional assessments
• Participants will have their blood drawn in a lab in their community or using a home draw device, and ship it to us for research genetic analysis
• Participants can chose to have their research genetic test result returned to them

Study Overview

• Status: Recruiting
• Conditions: Myotonic Dystrophy Type 1 (DM1); DM1

• Study Type: Observational
• Enrollment (Estimated): 1000

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: Jeanne Dekdebrun; Phone Number: 585-275-0420; Email: REACHDM@URMC.rochester.edu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Myotonic dystrophy DM1 between the ages of 18-88 years old

Description

Inclusion Criteria:

• Age 18-88 years
• Clinical diagnosis of DM1
• English speaking
• Able to provide informed consent
• Available wifi

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 a memory tests on the study iPad lasting less than 10 minutes. Scoring will look at the number of correct answers as well as time to complete (in seconds).	12 months
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 participants pants	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
Timed Up and Go	Participant will sit in a chair, stand up, walk a designated distance, turn around and return to the chair to sit down. The amount of time it takes to complete this will be documented in seconds	12 months

Collaborators and Investigators

• Sponsor: University of Rochester
• Collaborators: National Institutes of Health (NIH); Muscular Dystrophy Association; Myotonic Dystrophy Foundation (MDF)
• Investigators: Principal Investigator: Johanna Hamel, MD, University of Rochester

Study record dates

Study Major Dates

• Study Start (Actual): May 10, 2022
• Primary Completion (Estimated): January 1, 2030
• Study Completion (Estimated): January 1, 2030

Study Registration Dates

• First Submitted: March 17, 2026
• First Submitted That Met QC Criteria: March 25, 2026
• First Posted (Actual): April 1, 2026

Study Record Updates

• Last Update Posted (Actual): April 1, 2026
• Last Update Submitted That Met QC Criteria: March 25, 2026
• Last Verified: March 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: STUDY00006466

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