RecruitingNCT05224778
DMCRN-02-001: Assessing Pediatric Endpoints in DM1
Assessing Pediatric Endpoints in DM1 (ASPIRE-DM1)
Sponsor
Virginia Commonwealth University
Enrollment
50 participants
Start Date
Aug 24, 2022
Study Type
OBSERVATIONAL
Conditions
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.
Eligibility
Max Age: 59 Months
Inclusion Criteria3
- 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 Criteria5
- 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
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Locations(5)
View Full Details on ClinicalTrials.gov
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NCT05224778