DMCRN-02-001: Assessing Pediatric Endpoints in DM1

Part of paid clinical trials in Los Angeles, California.

Sponsor
Virginia Commonwealth University
Study ID
NCT05224778
Status
Recruiting
Apply to this trial

Conditions

  • CDM
  • Congenital Myotonic Dystrophy

Eligibility Criteria

Sex
ALL
Age
N/A - 59 Months
Healthy Volunteers
Not accepted

Study Details

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.

Key Dates

Start date
Aug 24, 2022
Status verified
Jun 2026
Primary completion
Oct 31, 2026
Completion
Dec 31, 2026

Study Design

Enrollment
50 participants (estimated)

Arms

  • Arm: Congenital Myotonic Dystrophy (CDM)
    CDM group includes those aged neonate to 3 years, 11 months at enrollment. Individuals must have 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).

Primary Outcome Measure

To evaluate motor milestone attainment in individuals with CDM and ChDM and compare to typically developing children [ Time Frame: Through study completion at 18 months ]

Central Contacts

Locations (4)

FacilityCityStateZIPSite coordinators
University of California, Los AngelesLos AngelesCalifornia90095
Merve Kaleli
[email protected]
Dennis Fernando
[email protected]
310-825-3264
Perry Shieh, MD, PhD (PRINCIPAL_INVESTIGATOR)
University of Kansas Medical CenterFairwayKansas66205
Cassidy Nelson
[email protected]
Michaela Walker
[email protected]
Jeffrey Statland, MD (PRINCIPAL_INVESTIGATOR)
University of Rochester Medical CenterRochesterNew York14642
Jeanne Dekdebrun
[email protected]
Bohoon Lee, MD (PRINCIPAL_INVESTIGATOR)
Virginia Commonwealth UniversityRichmondVirginia23298
Shantel Kyles
[email protected]
Jodie Howell
[email protected]
Nicholas E. Johnson, MD (PRINCIPAL_INVESTIGATOR)

Find similar trials in Los Angeles, CA

By research site
University of California, Los Angeles· Los Angeles, CAUniversity of Kansas Medical Center· Fairway, KSUniversity of Rochester Medical Center· Rochester, NYVirginia Commonwealth University· Richmond, VA

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