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Recruiting NCT06747884

Trial Readiness and Endpoint Assessment in Pediatric Myotonic Dystrophy Extension

Conditions: Congenital Myotonic Dystrophy, Childhood Myotonic Dystrophy, Myotonic Dystrophy

Sex: All
Ages: 3 Years – 17 Years
Healthy volunteers: No
Enrollment: 200
Sponsor: Virginia Commonwealth University

Location: Arkansas Children's Hospital Little Rock Arkansas

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 (\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 \

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View on ClinicalTrials.gov

Source: ClinicalTrials.gov (NCT06747884). StuddyBuddy aggregates publicly available trial information.