DMCRN-02-001: Assessing Pediatric Endpoints in DM1
Start Date
8/24/2022
Completion Date
12/1/2026
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.
Detailed 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 .
Eligibility Criteria
Age Range: No minimum to No maximum
Conditions
Locations
University of California, Los Angeles
Los Angeles, California 90095
United States
University of Kansas Medical Center
Fairway, Kansas 66205
United States
University of Rochester Medical Center
Rochester, New York 14642
United States
Virginia Commonwealth University
Richmond, Virginia 23298
United States
Centro Clinico NeMO
Milan, 20162
Italy