Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy

Completed

Conditions studied: Congenital Myotonic Dystrophy

In brief

Congenital Myotonic Dystrophy (CDM) is a multi-systemic, dominantly inherited disorder caused by a trinucleotide repeat expansion (CTGn) in the DMPK gene. CDM occurs when the CTGn increases between the adult myotonic dystrophy type-1 (DM1) parent and the child. Children with CDM present at birth with respiratory insufficiency, talipes equinovarus, feeding difficulties and hypotonia. There is a 30% mortality rate in the first year of life. As children grow, they are at risk for intellectual impairment, autistic features, gastrointestinal symptoms, and motor delay. The investigators will enroll children with CDM between ages 0-15 with visits at baseline and one year to evaluate appropriate physical functional outcomes, cognitive function and quality of life over time. Functional outcome measures will be correlated with potential biomarkers in the children. Completion of these specific aims will extend the understanding of disease progression in CDM and will provide the requisite information for successful therapeutic trials in children with DM.

Key facts

Study ID

NCT03059264

Run by

Virginia Commonwealth University

People needed

100

Starts

2016-12-14

Expected to finish

2025-01-27

Last updated by the study team

2025-03-11

Who can join

Age: any, up to 15. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• Age 0-15 yrs
• Diagnosis of CDM, based on symptoms and genetic testing of expanded trinucleotide repeats.

You may not qualify if…

• Any other non-DM1 illness that would interfere with the ability or results of the study in the opinion of site investigator
• Significant trauma within one month
• Internal metal or devices
• Control Group
• Inclusion Criteria:
• Age 0-15 yrs
• Healthy children on no medication
• Exclusion Criteria:
• Any illness or situation that, in the opinion of the site investigator, has the possibility to interfere with study procedures
• DM type 1 and 2

Where it is running

• Virginia Commonwealth University — Richmond, Virginia, United States
• Pediatric Neuromuscular Research, Children's Hospital - LHSC — London, Ontario, Canada
• Centro Clinico Nemo — Milan, Italy

Full record on ClinicalTrials.gov

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