Actively Recruiting
Assessing Pediatric Endpoints in DM1 (ASPIRE-DM1)
Led by Virginia Commonwealth University · Updated on 2025-06-11
50
Participants Needed
5
Research Sites
8 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
This research aims to establish reliable clinical measures and biomarkers for children with congenital myotonic dystrophy type 1 (CDM), a genetic muscle disorder that begins at birth. CDM affects infants with symptoms like low muscle tone, feeding problems, or breathing difficulties requiring hospital care. The study focuses on understanding developmental milestones, physical and cognitive abilities, and quality of life in a larger group of affected children than previous studies. Participants are children from newborn to 3 years and 11 months old diagnosed with CDM, confirmed by genetic testing showing a specific gene repeat expansion. The study observes these children without providing experimental treatments. Researchers track their motor milestones and other functions over time using assessments like the Vineland, dysarthria evaluation, and gross motor function measure, comparing results with typically developing children. During the study, children will undergo various developmental and functional tests through 18 months to evaluate motor skills and other abilities. Parents or guardians will provide consent and help with study procedures. The researchers will collect information on motor milestone attainment and other developmental measures, aiming to correlate these with potential biomarkers. The study will continue until the primary outcomes are assessed at 18 months.
CONDITIONS
Brief Title
DMCRN-02-001: Assessing Pediatric Endpoints in DM1
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Age from newborn to 3 years 11 months at enrollment
- Diagnosis of congenital myotonic dystrophy with symptoms starting within 30 days of birth
- Symptoms include low muscle tone, feeding or breathing difficulties requiring hospitalization for more than 72 hours
- Genetic test confirming expanded CTG repeat in DMPK gene in child or mother (greater than 200 repeats or E1-E4 classification)
- Guardian willing and able to sign consent and follow study procedures
You will not qualify if you...
- Any other illness that could interfere with study participation or results
- Significant trauma within the past month
- Presence of internal metal or devices (for DEXA component exclusion)
- History of bleeding disorder or platelet count below 50,000
- History of allergic reaction to local anesthetic
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 18 months
Participants are observed over time to evaluate motor milestone attainment, motor functions, cognitive function, and quality of life measures up to 18 months.
Regular visits over the 18-month period
Trial Site Locations
Total: 5 locations
1
University of California, Los Angeles
Los Angeles, California, United States, 90095
Actively Recruiting
2
University of Kansas Medical Center
Fairway, Kansas, United States, 66205
Actively Recruiting
3
University of Rochester Medical Center
Rochester, New York, United States, 14642
Actively Recruiting
4
Virginia Commonwealth University
Richmond, Virginia, United States, 23298
Actively Recruiting
5
Centro Clinico NeMO
Milan, Italy, 20162
Actively Recruiting
Research Team
R
Ruby Langeslay
J
Jennifer Raymond
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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