Study of Development and Biomarkers in Young Children with Congenital Myotonic Dystrophy From Birth to 3 Years 11 Months

What this Trial Is About

Researchers are studying children with congenital myotonic dystrophy type 1 CDM, a genetic muscle disorder that begins at birth and affects physical and cognitive development. The study aims to establish reliable clinical assessments and biomarkers to better understand developmental milestones, physical and cognitive function, and quality of life in this population. The study includes children from newborn to just under 4 years old with confirmed CDM, defined by specific early symptoms and genetic testing results. Participants are grouped as children aged from birth to 3 years and 11 months who have early symptoms such as low muscle tone, feeding or breathing difficulties requiring extended hospitalization, and a confirmed genetic expansion in the DMPK gene. The study focuses on tracking motor milestone attainment and other function measures over an 18-month period. No specific treatments are given since this is an observational study. Throughout the study, participants will be evaluated for motor skills and developmental progress using various assessments such as the Gross Motor Function Measure and Vineland scales. The study will also collect data on speech difficulties and other developmental domains. Guardians will provide consent and assist with study procedures. The research team will monitor progress and correlate clinical outcomes with potential biomarkers, with participation lasting up to 18 months.

DMCRN-02-001: Assessing Pediatric Endpoints in DM1