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NCT Number: NCT07630389

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.

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Key information

Conditions

Myotonic Dystrophy Type 1 Childhood DM1 Congenital DM1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Juvenile DM1 Muscular Diseases Muscular Disorders, Atrophic Muscular Dystrophies Musculoskeletal Diseases Myotonic Disorders Myotonic Dystrophy Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases

Age range

0 year–17 year

Sex eligibility

All sexes

Study type

Observational

Primary location

University of Rochester

Rochester, New York, 14642, United States

Location status: Recruiting

Location contact

Erin Richardson

CONTACT

[email protected]

585-275-0420

Johanna Hamel, MD

PRINCIPAL_INVESTIGATOR

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. 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.

  2. Remote assessment of grip strength

    Time frame: 12 months

    Grip strength will be assessed using a hand held dynamometer (strength measured in kg)

  3. 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.

  4. 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.

  5. 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.

  6. 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.

Study contacts

Contact information is provided by the study sponsor or research team.

Jeanne Dekdebrun

CONTACT

[email protected]

585-275-0420

Sponsors and collaborators

Lead sponsor

University of Rochester

Other

Registry information

Official study title

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

Acronym: REACH-DM KIDS

Important dates

Study start
2023
Primary completion
2030
Study completion
2030
First posted
Jun 5, 2026
Registry last updated
Jun 5, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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