DMCRN-02-001: Assessing Pediatric Endpoints in DM1
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeUp to 59
SponsorVirginia Commonwealth University
About this trial
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 criteria
Qualifiers
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
Disqualifiers
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
Trial design
Treatments tested in this trial
- Not listed
Trial groups
50 Participants
are grouped into 1 trial groupSponsors and collaborators
Source ClinicalTrials.gov