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Observational Study for Congenital Myotonic Dystrophy

This study is looking at children with congenital myotonic dystrophy (CDM), a type of muscular dystrophy that appears at birth. Researchers want to understand how children with CDM develop motor skills compared to children without the condition. They are also working to find ways to measure the effects of CDM and identify biological markers (biomarkers) that could help in future research. This study is observational, meaning there are no specific treatments or interventions being tested. To join, children must be between birth and 3 years 11 months old and have a confirmed diagnosis of CDM, which includes symptoms like low muscle tone, feeding, or breathing difficulties in the newborn period. The study aims to enroll 50 participants. The goal is to see how well children with CDM reach motor milestones by the end of the study, which is 18 months after it begins.

Study design
This is an observational study that plans to enroll 50 participants. It is not testing any specific interventions.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
Motor milestone attainment will be evaluated through study completion at 18 months.

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NCT05224778

DMCRN-02-001: Assessing Pediatric Endpoints in DM1

Recruiting
Not specifiedUp to 59Observational
Virginia Commonwealth University
~50 participants
Updated 2026-06-10 on ClinicalTrials.gov

At a glance

Recruiting sites
5 of 5 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
To evaluate motor milestone attainment in individuals with CDM and ChDM and compare to typically developing children
Measured over Through study completion at 18 months

Conditions

Congenital Myotonic Dystrophy
CDM

Explore related trials

Congenital Myotonic DystrophyDMPK Gene

Where it's being run

5 sites across 5 states
California1
Kansas1
New York1
Virginia1
Italy1

Study leadership

  • Nicholas E. Johnson, MD · PRINCIPAL_INVESTIGATOR · Virginia Commonwealth University

Who to contact

Ruby Langeslay
[email protected]
804-828-8481
Email the study team

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Eligibility criteria

Inclusion

Age neonate to 3 years 11 months at enrollment.
A diagnosis of CDM, which is defined as children having symptoms of myotonic dystrophy in the newborn period (\<30 days), such as hypotonia, feeding or respiratory difficulty, requiring hospitalization to a ward or to the neonatal intensive care unit for more than 72 hours; and a genetic test confirming an expanded trinucleotide (CTG) repeat in the DMPK gene in the child or mother. An expanded CTG repeat size in the child is considered greater than 200 repeats or E1-E4 classification (E1= 200-500, E2=500-1,000, E3=1,000-1,500, E4\>1,500).
Guardian is willing and able to sign consent and follow study procedures

Exclusion

Any other non-DM1 illness that would interfere with the ability or results of the study in the opinion of the site investigator
Significant trauma within one month
Internal metal or devices (exclusion for DEXA component)
History of bleeding disorder or platelet count \<50,000
History of reaction to local anesthetic

What this trial measures

  • To evaluate motor milestone attainment in individuals with CDM and ChDM and compare to typically developing childrenThrough study completion at 18 months

    Milestone Assessment using Peabody definitions: This survey would ask parents to assess the age of motor milestones in days, months of infant age. Birth history, including prematurity, ventilatory status, and feeding problems would also be collected on the CRF. Feeding and ventilatory support, as well as height and weight will be collected at each study visit.