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Clinical trial Recruiting at 1 site Observational Ages 3 to 17

Assessing Readiness and Endpoints for Pediatric Myotonic Dystrophy

Official title: Trial Readiness and Endpoint Assessment in Pediatric Myotonic Dystrophy Extension

Run by Virginia Commonwealth University · NCT06747884 · Data updated 2026-11-12

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.

Quick facts

Study typeObservational
Ages3 Years to 17 Years
SexAll
Enrollment200 (estimated)
SponsorVirginia Commonwealth University
Academic / other
Locations4 sites (Little Rock, Arkansas and 3 other locations)
StatusRecruiting
StartedJune 6, 2025
Main results expectedJune 2030
Study endsJune 2030
Registry record updatedAugust 11, 2026
Trial IDNCT06747884 on ClinicalTrials.gov

Is this trial a fit for you?

Likely a good fit

Ideal candidates include children aged 5 to 17 years with a confirmed diagnosis of congenital or childhood myotonic dystrophy.

Probably not a fit

Patients outside the specified age range or those without a confirmed diagnosis of myotonic dystrophy 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 enhance the assessment methods and biological sample collection for future clinical trials targeting congenital and childhood myotonic dystrophy. It focuses on understanding the natural history of these conditions, which are characterized by multi-systemic effects and significant early-life challenges. By gathering data on clinical endpoints and biomarkers, the study seeks to address the limitations faced in adapting adult treatment protocols for pediatric patients. The findings will help inform the design of more effective therapeutic trials for children with these disorders.

Why it matters

Potential benefit: If successful, this study could lead to improved clinical trial designs and more effective treatments for children suffering from myotonic dystrophy.

How similar studies have gone: While there are ongoing studies in adult populations, this approach to pediatric myotonic dystrophy is novel and has not been extensively tested.

Who can join: the full rules

Show full inclusion / exclusion criteria 
Inclusion Criteria (Congenital Myotonic Dystrophy Group):

* 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.

Inclusion Criteria (Childhood Myotonic Dystrophy Group):

* 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.
* A diagnosis of ChDM, defined as: children having cognitive deficits, muscle weakness, myotonia that developed after age 1 and prior to age 10 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.

Exclusion Criteria:

* 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
* Platelet count \<50,000
* History of a bleeding disorder
* Participation in a clinical trial involving an investigational product
* History of adverse reaction to lidocaine (if participating in muscle biopsy)

Where it's running

  • Virginia Commonwealth University
    Richmond, Virginia, United States     Recruiting
  • Arkansas Children's Hospital
    Little Rock, Arkansas, United States     Not yet recruiting
  • University of Kansas Medical Center
    Kansas City, Kansas, United States     Not yet recruiting
  • Hospital das Clínicas, University of São Paulo School of Medicine (HCFMUSP)
    Cerqueira César, São Paulo, Brazil     Not yet recruiting

Study contacts

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

How to take part

  1. Review the eligibility criteria above with your treating physician.
  2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
  3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.
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Congenital Myotonic Dystrophy 5Myotonic Dystrophy 55Virginia Commonwealth University 615
Last reviewed 2026-11-14 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.