Remote Assessments and Genetic Determinants of Myotonic Dystrophy
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Myotonic Dystrophy Type 1 (DM1), DM1. Basic parameters: 18 years — 88 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
REACH DM - Remote Assessments and Genetic Determinants of Myotonic Dystrophy
Overview
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
Primary outcome measures
- Remote assessment of grip strength [Time frame: 12 months]
- Remote assessment of cognitive function [Time frame: 12 months]
- Remote assessment of activity [Time frame: 12 months]
- Genetic test [Time frame: at baseline]
- Timed Up and Go [Time frame: 12 months]
Eligibility criteria
Inclusion criteria
- Age 18-88 years
- Clinical diagnosis of DM1
- English speaking
- Able to provide informed consent
- Available wifi
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
United States · 1 center
- University of Rochester — Rochester
Identifiers
NCT: NCT07505342 · STUDY00006466