NCT05224778

DMCRN-02-001: Assessing Pediatric Endpoints in DM1

Assessing Pediatric Endpoints in DM1 (ASPIRE-DM1)

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 50 (estimated)
• Sponsor: Virginia Commonwealth University · Academic / Other
• Sex: All
• Age: 59 Months
• Healthy volunteers: Not accepted

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 .

Conditions

• Congenital Myotonic Dystrophy
• CDM

Timeline

• Start date: 2022-08-24
• Primary completion: 2026-10-01
• Completion: 2026-12-01
• First posted: 2022-02-04
• Last updated: 2025-06-11

Locations

5 sites across 2 countries: United States, Italy