Assessing clinical endpoints in children with myotonic dystrophy
Official title: Assessing Pediatric Endpoints in DM1 (ASPIRE-DM1)
Run by Virginia Commonwealth University · NCT05224778 · Data updated 2026-11-12
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 |
|---|---|
| Ages | Any age to 59 Months |
| Sex | All |
| Enrollment | 50 (estimated) |
| Sponsor | Virginia Commonwealth University Academic / other |
| Locations | 5 sites (Los Angeles, California and 4 other locations) |
| Status | Recruiting |
| Started | August 24, 2022 |
| Main results expected | December 2026 |
| Study ends | December 2026 |
| Registry record updated | November 3, 2026 |
| Trial ID | NCT05224778 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include children aged neonate to 4 years 11 months with a diagnosis of congenital or childhood myotonic dystrophy.
✕Probably 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.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: 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.
Who can join: the full rules
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 it's running
-
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
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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Assessing Readiness and Endpoints for Pediatric Myotonic Dystrophy
This study is trying to improve how we understand and measure the effects of congenital and childhood myotonic dystrophy to help create better treatments for kids with these conditions.
-
Evaluating Tideglusib for Congenital Myotonic Dystrophy
This study is testing a new medication called tideglusib to see if it can help children and teenagers with Congenital Myotonic Dystrophy feel better over a year of treatment.
-
Online registry for myotonic dystrophy patients
This study is creating an online registry for people with myotonic dystrophy to share their experiences and help researchers find better treatments.
-
Registry for Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy
This study is creating a registry for people with myotonic dystrophy or facioscapulohumeral muscular dystrophy to share their health information and connect with researchers working to learn more about these conditions.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.