Status:
RECRUITING
DMCRN-02-001: Assessing Pediatric Endpoints in DM1
Lead Sponsor:
Virginia Commonwealth University
Conditions:
Congenital Myotonic Dystrophy
CDM
Eligibility:
All Genders
Up to 59 years
Brief 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 o...
Eligibility Criteria
Inclusion
- 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
- 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
Key Trial Info
Start Date :
August 24 2022
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 1 2026
Estimated Enrollment :
50 Patients enrolled
Trial Details
Trial ID
NCT05224778
Start Date
August 24 2022
End Date
December 1 2026
Last Update
June 11 2025
Active Locations (5)
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1
University of California, Los Angeles
Los Angeles, California, United States, 90095
2
University of Kansas Medical Center
Fairway, Kansas, United States, 66205
3
University of Rochester Medical Center
Rochester, New York, United States, 14642
4
Virginia Commonwealth University
Richmond, Virginia, United States, 23298