NCT06747884 Trial Readiness and Endpoint Assessment in Pediatric Myotonic Dystrophy Extension
| NCT ID | NCT06747884 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Virginia Commonwealth University |
| Condition | Congenital Myotonic Dystrophy |
| Study Type | OBSERVATIONAL |
| Enrollment | 200 participants |
| Start Date | 2025-06-06 |
| Primary Completion | 2030-06 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 200 participants in total. It began in 2025-06-06 with a primary completion date of 2030-06.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
This is a natural history study to improve the types of assessments and biological samples that will be used in clinical drug trials in both congenital myotonic dystrophy and childhood myotonic dystrophy.
Eligibility 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)
Contact & Investigator
Nicholas Johnson, MD, MSCI, FAAN
PRINCIPAL INVESTIGATOR
Virginia Commonwealth University
Frequently Asked Questions
Who can join the NCT06747884 clinical trial?
This trial is open to participants of all sexes, aged 3 Years or older, up to 17 Years, studying Congenital Myotonic Dystrophy. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06747884 currently recruiting?
Yes, NCT06747884 is actively recruiting participants. Contact the research team at Ruby.Langeslay@vcuhealth.org for enrollment information.
Where is the NCT06747884 trial being conducted?
This trial is being conducted at Richmond, United States.
Who is sponsoring the NCT06747884 clinical trial?
NCT06747884 is sponsored by Virginia Commonwealth University. The principal investigator is Nicholas Johnson, MD, MSCI, FAAN at Virginia Commonwealth University. The trial plans to enroll 200 participants.