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
This trial does not accept healthy volunteersQualifiers
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 population
The study will enroll up to 200 children with CDM and ChDM.
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
200 Participants
are grouped into 2 trial groupsGroup A: Congenital myotonic dystrophy (CDM)
Group B: Childhood Myotonic Dystrophy
Trial outcomes
Primary outcomes
1
Change in ambulation over 24 months as measured by the 10-Meter Walk/Run Test (10M WRT)
The participant will be timed walking or running along a 10-meter course. It is scored by recording the total time taken to ambulate 6 meters (m) is recorded to the nearest hundredth of a second. 6 m is then divided by the total time (in seconds) taken to ambulate and recorded in m/s.
Time frame
Baseline, Month 12 and Month 24 visits2
Change in mobility (100-meter timed test)
Mobility will be measured using the 100 Meter Timed Test (100m) in which the participant is asked to complete 2 laps around 2 cones set 25 meters apart as quickly as safely possible, running if able. The total time in seconds is recorded from when the participant starts walking until they break the plane of the 100 meter mark (i.e., when any part of the body passes the 100 meter mark).
Time frame
Baseline, Month 12 and Month 24 visits3
Change in Time to Stand (SUPINE TO STAND test)
Participant will be timed transitioning from a supine position to standing. The participant will complete one trial of this test. The test measures the participant's ability to quickly rise from a supine position on the floor with arms at their sides, to full upright posture with arms at their sides. This should be performed without external support from another person, a device, or furniture. Results will be reported in seconds.
Time frame
Baseline, Month 12 and Month 24 visits4
Change in Gross Motor Function (GMFM-88)
The Gross Motor Function Measure (GMFM-88) is an assessment tool originally designed and evaluated to measure changes in gross motor function over time or with intervention in children with cerebral palsy. The GMFM assesses functional abilities including; lying/rolling, sitting, crawling/kneeling, standing, and walking/running/jumping. A four-point ordinal scale of measurement is used to assess each item, higher scores denote better performance. A score of 4 on an item indicates a consistently normal response, a score \> 4 indicates persistent hypertonus, and a score \< 4 indicates various degrees of hypotonus.
Time frame
Baseline, Month 12 and Month 24 visitsSponsors and contacts
Click on the lead sponsor to view all of their trials.
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