NCT07630389 · University of Rochester
Remote Assessments and Genetic Determinants of Congenital and Childhood Myotonic Dystrophy
(REACH-DM KIDS)
What this study is about
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.
View original scientific description
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.
Primary outcome measures
Remote assessment of cognitive function
Time frame: 12 months
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.
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 Video Hand Opening Time (VHOT)
Time frame: 12 months
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.
10 Meter Walk/Run Test
Time frame: 12 months
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.
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.
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 participant's pants.
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
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
Where
- Rochester, New York
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Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Jun 5, 2026 · Source of record for eligibility and locations