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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

Official record on ClinicalTrials.gov — NCT05224778

Locations in the U.S.

CaliforniaUniversity of California, Los Angeles, Los Angeles
KansasUniversity of Kansas Medical Center, Fairway
New YorkUniversity of Rochester Medical Center, Rochester
VirginiaVirginia Commonwealth University, Richmond

Conditions

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.