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Recruiting NCT05224778

NCT05224778 DMCRN-02-001: Assessing Pediatric Endpoints in DM1

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Clinical Trial Summary
NCT ID NCT05224778
Status Recruiting
Phase
Sponsor Virginia Commonwealth University
Condition Congenital Myotonic Dystrophy
Study Type OBSERVATIONAL
Enrollment 50 participants
Start Date 2022-08-24
Primary Completion 2026-10

Eligibility & Interventions

Sex All sexes
Min Age N/A
Max Age 59 Months
Study Type OBSERVATIONAL

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 50 participants in total. It began in 2022-08-24 with a primary completion date of 2026-10.

⚠ 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

The overall goal of the study is to establish valid clinical endpoint assessments for children with congenital myotonic dystrophy type 1 and develop biomarkers for the condition.

Eligibility 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

Contact & Investigator

Central Contact

Ruby Langeslay

✉ ruby.langeslay@vcuhealth.org

📞 804-828-8481

Principal Investigator

Nicholas E. Johnson, MD

PRINCIPAL INVESTIGATOR

Virginia Commonwealth University

Frequently Asked Questions

Who can join the NCT05224778 clinical trial?

This trial is open to participants of all sexes, up to 59 Months, 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 NCT05224778 currently recruiting?

Yes, NCT05224778 is actively recruiting participants. Contact the research team at ruby.langeslay@vcuhealth.org for enrollment information.

Where is the NCT05224778 trial being conducted?

This trial is being conducted at Los Angeles, United States, Fairway, United States, Rochester, United States, Richmond, United States and 1 additional location.

Who is sponsoring the NCT05224778 clinical trial?

NCT05224778 is sponsored by Virginia Commonwealth University. The principal investigator is Nicholas E. Johnson, MD at Virginia Commonwealth University. The trial plans to enroll 50 participants.

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