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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.
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Inclusion and exclusion criteria
CDM Group
Inclusion Criteria:
Exclusion Criteria:
Control Group
Inclusion Criteria:
Exclusion Criteria:
100 participants in 2 patient groups
There are currently no registered sites for this trial.
Central trial contact
Jennifer Raymond; Ruby Langeslay, MD
Start date
Dec 14, 2016 • 8 years ago
Today
Jan 21, 2025
End date
Mar 30, 2025 • in 2 months
Lead Sponsor
Collaborating Sponsors
Fondazione Serena Onlus - Centro Clinico NeMO Milano
University of Western Ontario, Canada, Children's Health Research Institute
Data sourced from clinicaltrials.gov
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