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Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy

NCT03059264 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 100

Last updated 2025-03-11

No results posted yet for this study

Summary

Congenital Myotonic Dystrophy (CDM) is a multi-systemic, dominantly inherited disorder caused by a trinucleotide repeat expansion (CTGn) in the DMPK gene. CDM occurs when the CTGn increases between the adult myotonic dystrophy type-1 (DM1) parent and the child. Children with CDM present at birth with respiratory insufficiency, talipes equinovarus, feeding difficulties and hypotonia. There is a 30% mortality rate in the first year of life. As children grow, they are at risk for intellectual impairment, autistic features, gastrointestinal symptoms, and motor delay.

The investigators will enroll children with CDM between ages 0-15 with visits at baseline and one year to evaluate appropriate physical functional outcomes, cognitive function and quality of life over time. Functional outcome measures will be correlated with potential biomarkers in the children. Completion of these specific aims will extend the understanding of disease progression in CDM and will provide the requisite information for successful therapeutic trials in children with DM.

Conditions

  • Congenital Myotonic Dystrophy

Interventions

OTHER

Natural history

Longitudinal disease progression

Sponsors & Collaborators

  • Fondazione Serena Onlus - Centro Clinico NeMO Milano

    collaborator OTHER

  • University of Western Ontario, Canada, Children's Health Research Institute

    collaborator UNKNOWN

  • Virginia Commonwealth University

    lead OTHER

Principal Investigators

  • Nicholas Johnson, MD · Virginia Commonwealth University

Eligibility

Min Age
0 Years
Max Age
15 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2016-12-14
Primary Completion
2021-12-08
Completion
2025-01-27

Countries

  • United States
  • Canada
  • Italy

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03059264 on ClinicalTrials.gov