Remote Assessments and Genetic Determinants of Congenital and Childhood 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, Congenital DM1, Juvenile DM1, Childhood DM1. Basic parameters: 0 years — 17 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 KIDS: Remote Assessments and Genetic Determinants of Congenital and Childhood Myotonic Dystrophy
Overview
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]
- Remote assessment of grip strength [Time frame: 12 months]
- Remote assessment of Video Hand Opening Time (VHOT) [Time frame: 12 months]
- 10 Meter Walk/Run Test [Time frame: 12 months]
- Genetic Test [Time frame: At baseline]
- Remote assessment of activity [Time frame: 12 months]
Eligibility criteria
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
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: NCT07630389 · STUDY00008307