Assessing clinical endpoints in children with myotonic dystrophy
Assessing Pediatric Endpoints in DM1 (ASPIRE-DM1)
This study is trying to find better ways to measure how children with myotonic dystrophy are developing and feeling, so we can understand their condition and improve their care.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 50 (estimated) |
| Ages | N/A to 59 Months |
| Sex | All |
| Sponsor | Virginia Commonwealth University Academic / other |
| Locations | 5 sites (Los Angeles, California and 4 other locations) |
| Trial ID | NCT05224778 on ClinicalTrials.gov |
What this trial studies
This observational study aims to establish valid clinical endpoint assessments for children diagnosed with congenital myotonic dystrophy type 1 and childhood myotonic dystrophy type 1. It seeks to include a larger population of patients to determine developmental milestones, measures of physical and cognitive function, and quality of life. The study will also correlate functional outcome measures with potential biomarkers for these conditions, addressing the limited data available on disease progression in affected children.
Who should consider this trial
Good fit: Ideal candidates include children aged neonate to 4 years 11 months with a diagnosis of congenital or childhood myotonic dystrophy.
Not a fit: Patients who do not have a confirmed diagnosis of myotonic dystrophy or are outside the specified age range may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved assessment and management strategies for children with myotonic dystrophy.
How similar studies have performed: While there is limited data on similar studies involving children with myotonic dystrophy, the approach of establishing clinical endpoints and biomarkers is a novel and necessary step in this field.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * 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 Exclusion Criteria: * 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 * History of reaction to local anesthetic
Where this trial is running
Los Angeles, California and 4 other locations
- University of California, Los Angeles — Los Angeles, California, United States (Recruiting)
- University of Kansas Medical Center — Fairway, Kansas, United States (Recruiting)
- University of Rochester Medical Center — Rochester, New York, United States (Recruiting)
- Virginia Commonwealth University — Richmond, Virginia, United States (Recruiting)
- Centro Clinico NeMO — Milan, Italy (Recruiting)
Study contacts
- Principal investigator: Nicholas E. Johnson, MD — Virginia Commonwealth University
- Study coordinator: Ruby Langeslay
- Email: ruby.langeslay@vcuhealth.org
- Phone: 804-828-8481
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.