Varieties of repetitive behavior in autism: comparisons to mental retardation.
J W Bodfish, F J Symons, D E Parker...
https://pubmed.ncbi.nlm.nih.gov/11055459Actively Recruiting
Age: 3Years - 17Years
All Genders
ID06747884
Trial Readiness and Endpoint Assessment in Pediatric Myotonic Dystrophy Extension
Led by Virginia Commonwealth University · Updated on 2025-07-30
200
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
Sponsors
V
Virginia Commonwealth University
Lead Sponsor
N
National Institute of Neurological Disorders and Stroke (NINDS)
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are studying congenital myotonic dystrophy (CDM) and childhood myotonic dystrophy (ChDM), both inherited disorders caused by a genetic mutation in the DMPK gene. These conditions affect multiple body systems and lead to symptoms such as muscle weakness, feeding and respiratory difficulties, intellectual impairments, and developmental delays. The study aims to develop reliable clinical assessments and biomarkers to be used in future drug trials for children with these disorders. The study is observational and will enroll up to 200 children with CDM or ChDM. No treatments are given as part of this study. Participants will continue with their usual medical care. Study visits will take place at the start (Baseline), after 12 months, and after 24 months to collect data. These visits include a range of physical and cognitive tests to measure changes in mobility, muscle strength, motor skills, language, swallowing, quality of life, sleepiness, behavior, and adaptive functioning. During the 24-month participation, children will undergo assessments such as the 10-Meter Walk/Run Test, Gross Motor Function Measure, hand strength tests, intelligence scales, and behavior questionnaires. These evaluations help researchers track changes in physical and cognitive abilities over time. The study does not involve treatment but provides important information to improve future clinical trials. Safety and standard care are maintained throughout the study period.
CONDITIONS
Brief Title
Trial Readiness and Endpoint Assessment in Pediatric Myotonic Dystrophy Extension
Who Can Participate
Age: 3Years - 17Years
All Genders
Eligibility Criteria
You may qualify if you...
- Children aged 5 to 17 years and 11 months with congenital myotonic dystrophy, or aged 3 to 17 years and 11 months with childhood myotonic dystrophy
- Diagnosis of congenital myotonic dystrophy includes symptoms such as hypotonia, feeding or respiratory difficulties at birth requiring hospitalization over 72 hours
- Diagnosis of childhood myotonic dystrophy includes cognitive deficits, muscle weakness, or myotonia starting after age 1 and before age 10
- Genetic test confirming expanded CTG repeat in the DMPK gene in the child or mother, with repeat size greater than 200
- Written and voluntary informed consent obtained before any study procedures
You will not qualify if you...
- Presence of any other illness that might interfere with safe testing or affect results
- Significant trauma in the past month
- Internal metal or devices (excludes participation in DEXA scan component)
- Use of anticoagulant medications like warfarin or dabigatran due to bleeding risk with biopsy
- Platelet count below 50,000
- History of bleeding disorders
- Current participation in a clinical trial with an investigational product
- History of adverse reaction to lidocaine if muscle biopsy is involved
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Monitoring
Duration - 24 months
Participants with congenital or childhood myotonic dystrophy are observed over time to assess changes in motor function, cognitive abilities, and quality of life without receiving any study treatment.
3 visits: Baseline, Month 12, and Month 24
Trial Site Locations
Total: 1 location
1
Virginia Commonwealth University
Richmond, Virginia, United States, 23298
Actively Recruiting
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Research Team
R
Ruby Langeslay, MPH
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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