DMCRN-02-001: Assessing Pediatric Endpoints in DM1

Last updated: June 6, 2025
Sponsor: Virginia Commonwealth University
Overall Status: Active - Recruiting

Phase

N/A

Condition

Muscular Dystrophy

Treatment

N/A

Clinical Study ID

NCT05224778
HM20023386
  • Ages < 59
  • All Genders

Study Summary

The overall goal of the study is to establish valid clinical endpoint assessments for children with congenital myotonic dystrophy type 1 and develop biomarkers for the condition.

Eligibility Criteria

Inclusion

Inclusion Criteria:

  • Age neonate to 3 years 11 months at enrollment.

  • A diagnosis of CDM, which is defined as children having symptoms of myotonicdystrophy in the newborn period (<30 days), such as hypotonia, feeding orrespiratory difficulty, requiring hospitalization to a ward or to the neonatalintensive care unit for more than 72 hours; and a genetic test confirming anexpanded trinucleotide (CTG) repeat in the DMPK gene in the child or mother. Anexpanded CTG repeat size in the child is considered greater than 200 repeats orE1-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

Exclusion Criteria:

  • Any other non-DM1 illness that would interfere with the ability or results of thestudy 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

Study Design

Total Participants: 50
Study Start date:
August 24, 2022
Estimated Completion Date:
December 31, 2026

Study Description

Myotonic dystrophy type-1 (DM1) is an autosomal dominant disorder caused by a toxic CTG repeat expansion in the 3'UTR of the DMPK gene. DM1 is the most common adult-onset muscular dystrophy, with an overall prevalence of 1:8000. In approximately 10-20% of individuals with DM1, the onset of symptoms occurs at birth, which is known as congenital myotonic dystrophy (CDM).

Previous studies have enrolled a very limited number of children with CDM.

The rationale for this study is to include a larger population of patients with CDM in order to determine developmental milestones, measures of physical and cognitive function and quality of life, and correlate functional outcome measures with potential biomarkers in CDM .

Connect with a study center

  • Centro Clinico NeMO

    Milan, 20162
    Italy

    Active - Recruiting

  • University of California, Los Angeles

    Los Angeles, California 90095
    United States

    Active - Recruiting

  • Stanford University

    San Carlos, California 94070
    United States

    Site Not Available

  • University of Iowa

    Iowa City, Iowa 52242
    United States

    Site Not Available

  • University of Kansas Medical Center

    Fairway, Kansas 66205
    United States

    Active - Recruiting

  • University of Rochester Medical Center

    Rochester, New York 14642
    United States

    Active - Recruiting

  • Virginia Commonwealth University

    Richmond, Virginia 23298
    United States

    Active - Recruiting

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