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DMCRN-02-001: Assessing Pediatric Endpoints in DM1
RecruitingObservational study
Assessing Pediatric Endpoints in DM1 (ASPIRE-DM1)
Who can join
59 Months · All sexes
Full eligibility criteria
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=1,000-1,500, E4\>1,500). * Guardian is willing and able to sign consent and follow study procedures Exclusion Criteria: * Any other non-DM1 illness that would interfere with the ability or results of the study in the opinion of the site investigator * Significant trauma within one month * Internal metal or devices (exclusion for DEXA component) * History of bleeding disorder or platelet count \<50,000 * History of reaction to local anesthetic
About the study
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.
Sponsor: Virginia Commonwealth University · Participants: 50 · Started: Aug 24, 2022
Contact the study team
- Ruby Langeslay · Phone: 804-828-8481
- Jennifer Raymond · Phone: 804-828-6318
Official record on ClinicalTrials.gov — NCT05224778
Locations in the U.S.
Conditions
From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.