DMCRN-02-001: Assessing Pediatric Endpoints in DM1

Launched by VIRGINIA COMMONWEALTH UNIVERSITY · Jan 25, 2022

Keywords

ClinConnect Summary

The DMCRN-02-001 clinical trial is focused on understanding how congenital and childhood myotonic dystrophy type 1 affects children. The main goal of the study is to find reliable ways to measure the condition's impact on kids and to develop tests that can help identify the disease more effectively. Researchers are looking for children to participate who are diagnosed with either congenital myotonic dystrophy (CDM) or childhood myotonic dystrophy (ChDM), with specific age ranges for each group—newborns up to 3 years and 1 to 4 years old, respectively.

To be eligible for the study, children must have symptoms related to myotonic dystrophy and a genetic test confirming the condition. Parents or guardians must be willing to give consent and help follow the study procedures. Participants will be involved in assessments that aim to improve understanding of the disease and could lead to better treatments in the future. It's important for families to know that certain health conditions or recent injuries may prevent their child from joining the study.

Gender

ALL

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