Assessing Pediatric Endpoints in DM1 (ASPIRE-DM1)
Virginia Commonwealth University
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.
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 physica…
Eligibility
- Age range
- Up to 4 years
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * Age neonate to 3 years 11 months at enrollment. * A diagnosis of CDM, which is defined as children having symptoms of myotonic dystrophy in the newborn period (\<30 days), such as hypotonia, feeding or respiratory difficulty, requiring hospitalization to a ward or to the neonatal intensive care unit for more than 72 hours; and a genetic test confirming an expanded trinucleotide (CTG) repeat in the DMPK gene in the child or mother. An expanded CTG repeat size in the child is considered greater than 200 repeats or E1-E4 classification (E1= 200-500, E2=500-1,000, E3=1,000-1…
Locations (5)
- University of California, Los AngelesLos Angeles, California
- University of Kansas Medical CenterFairway, Kansas
- University of Rochester Medical CenterRochester, New York
- Virginia Commonwealth UniversityRichmond, Virginia
- Centro Clinico NeMOMilan