Trial Readiness and Endpoint Assessment in Pediatric Myotonic Dystrophy Extension
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age3-17
SponsorVirginia Commonwealth University
About this trial
This is a natural history study to improve the types of assessments and biological samples that will be used in clinical drug trials in both congenital myotonic dystrophy and childhood myotonic dystrophy.
Eligibility criteria
Qualifiers
Age 5-17 years, 11 months at enrollment. Lower age limit not applicable for participants who have completed ASPIRE-DM1 protocol. Upper age limit not applicable for participants who previously participated in TREAT-01-001 (TREAT-CDM) study
A diagnosis of CDM, 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).
Written, voluntary informed consent must be obtained before any study related procedures are conducted.
Age 3-17 years, 11 months at enrollment. Upper age limit not applicable for participants who previously participated in TREAT-01-001 (TREAT-CDM) study.
Disqualifiers
Any other non-DM1 illness that would interfere with the ability to undergo safe testing or would affect the interpretation of the results, in the opinion of the site investigator
Significant trauma within the past month
Internal metal or devices (exclusion for DEXA component)
Use of anticoagulants, such as warfarin or a direct oral anticoagulant (e.g., dabigatran) due to the increased risk of bleeding with biopsy
Trial design
Treatments tested in this trial
- Not listed
Trial groups
200 Participants
are grouped into 2 trial groupsSponsors and collaborators
Virginia Commonwealth University
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
Collaborator
SUNY Research Foundation
Collaborator
University of Minnesota
Collaborator
Roseman University of Health Sciences
Collaborator
University of California, San Diego
Collaborator
University of Glasgow
Collaborator
University of Kansas Medical Center
Collaborator
Source ClinicalTrials.gov