Myotonic Dystrophy Type 1 (DM1)REACH-DMNCT07505342
Remote Assessments and Genetic Determinants of Myotonic Dystrophy
An observational study of Myotonic Dystrophy Type 1 (DM1) and DM1, run by University of Rochester at 1 site in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 18 to 88 years
- Conditions the study is for
- Myotonic Dystrophy Type 1 (DM1), DM1
- How many people
- 1,000 participants
- Where
- 1 siteUnited States
- Study dates
- 10 May 2022to 1 Jan 2030
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 88 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Myotonic dystrophy DM1 between the ages of 18-88 years old
Who may be able to join
- Age 18-88 years
- Clinical diagnosis of DM1
- English speaking
- Able to provide informed consent
- Available wifi
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
University of Rochester
Rochester, New York, 14642
Jeanne Dekdebrun, 585-275-0420, REACHDM@URMC.rochester.edu
Johanna Hamel, MD
About this study
Official title: 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
- Conditions
- Myotonic Dystrophy Type 1 (DM1), DM1
- Medical subject headings
- Myotonic Dystrophy
What is being measured
The primary outcome is the main question the study is designed to answer.
Remote assessment of grip strength
Grip strength will be assessed using a hand held dynamometer (strength measured in kg)
Measured: 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).
Measured: 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
Measured: 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.
Measured: 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
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Apr 2026
- Study start10 May 2022
- Primary completion1 Jan 2030 (estimated)
- Study completion1 Jan 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Myotonic Dystrophy Type 1 (DM1)Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 1,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Rochester
- Sponsor type
- University, hospital or other
- Collaborators
- Muscular Dystrophy Association, Myotonic Dystrophy Foundation, National Institutes of Health (NIH)
- Responsible party
- Principal investigator, Johanna Hamel, University of Rochester
- Investigators
- Johanna Hamel, MD, Principal investigator, University of Rochester
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07505342
- Sponsor's protocol ID
- STUDY00006466
- Acronym
- REACH-DM
- Status last verified
- Mar 2026
- First submitted
- 17 Mar 2026
- Last updated
- 1 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: Aggregated and deidentified data will be shared with qualified investigators.
Study at a glance
From the registry record, last updated by the sponsor on 1 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- REACH DM - Remote Assessments and Genetic Determinants of Myotonic Dystrophy
- ClinicalTrials.gov ID
- NCT07505342
- Acronym / sponsor ID
- REACH-DM / STUDY00006466
- Conditions
- Myotonic Dystrophy Type 1 (DM1), DM1
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- University of RochesterUniversity, hospital or other
- Collaborators
- Muscular Dystrophy Association, Myotonic Dystrophy Foundation, National Institutes of Health (NIH)
- Study start
- 10 May 2022 (actual)
- Primary completion
- 1 Jan 2030 (estimated)
- Study completion
- 1 Jan 2030 (estimated)
- First posted
- 1 Apr 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 to 88 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Myotonic dystrophy DM1 between the ages of 18-88 years old
Key inclusion criteria (5 listed)
- Age 18-88 years
- Clinical diagnosis of DM1
- English speaking
- Able to provide informed consent
- Available wifi
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Remote assessment of grip strength
Time frame: 12 months
Grip strength will be assessed using a hand held dynamometer (strength measured in kg)
Remote assessment of cognitive function
Time frame: 12 months
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).
Remote assessment of activity
Time frame: 12 months
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
Genetic test
Time frame: at baseline
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.
Timed Up and Go
Time frame: 12 months
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Apr 2026.
- Individual participant dataSharing planned: No. Aggregated and deidentified data will be shared with qualified investigators.
Related trials for Myotonic Dystrophy Type 1 (DM1)
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Johanna Hamel, MD principal investigator
University of Rochester
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Myotonic Dystrophy Type 1 (DM1) and DM1, run by University of Rochester at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 1 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Jeanne Dekdebrun (585-275-0420, REACHDM@URMC.rochester.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Remote assessment of grip strength (time frame: 12 months). The study lists 5 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 Apr 2026.