Assessing Readiness and Endpoints for Pediatric Myotonic Dystrophy
Trial Readiness and Endpoint Assessment in Pediatric Myotonic Dystrophy Extension
Virginia Commonwealth University · NCT06747884
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 type | Observational |
|---|---|
| Enrollment | 200 (estimated) |
| Ages | 3 Years to 17 Years |
| Sex | All |
| Sponsor | Virginia Commonwealth University (other) |
| Locations | 1 site (Richmond, Virginia) |
| Trial ID | NCT06747884 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include children aged 5 to 17 years with a confirmed diagnosis of congenital or childhood myotonic dystrophy.
Not a fit: Patients outside the specified age range or those without a confirmed diagnosis of myotonic dystrophy may not benefit from this study.
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 performed: While there are ongoing studies in adult populations, this approach to pediatric myotonic dystrophy is novel and has not been extensively tested.
Eligibility criteria
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 this trial is running
Richmond, Virginia
- Virginia Commonwealth University — Richmond, Virginia, United States (RECRUITING)
Study contacts
- Principal investigator: Nicholas Johnson, MD, MSCI, FAAN — Virginia Commonwealth University
- Study coordinator: Ruby Langeslay, MPH
- Email: Ruby.Langeslay@vcuhealth.org
- Phone: 804-828-6318
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.
Conditions: Congenital Myotonic Dystrophy, Childhood Myotonic Dystrophy, Myotonic Dystrophy, DM1, Myotonia, Dystrophy Myotonic, DMCRN, TREAT-EXT