Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy

NCT ID: NCT03059264

Last Updated: 2025-03-11

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 100 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2016-12-14
• Study Completion Date: 2025-01-27

Brief Summary

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.

Conditions

Congenital Myotonic Dystrophy

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

CDM

Children with Congenital Myotonic Dystrophy

Natural history

Intervention Type: OTHER

Longitudinal disease progression

Control

Healthy Children

Natural history

Intervention Type: OTHER

Longitudinal disease progression

Interventions

Natural history

Longitudinal disease progression

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

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

• Age 0-15 yrs
• Healthy children on no medication

Exclusion Criteria

• 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

• 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

• Minimum Eligible Age: 0 Years
• Maximum Eligible Age: 15 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Fondazione Serena Onlus - Centro Clinico NeMO Milano

OTHER

Sponsor Role: collaborator

University of Western Ontario, Canada, Children's Health Research Institute

UNKNOWN

Sponsor Role: collaborator

Virginia Commonwealth University

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Nicholas Johnson, MD

Role: PRINCIPAL_INVESTIGATOR

Virginia Commonwealth University

Locations

Virginia Commonwealth University

Richmond, Virginia, United States

Pediatric Neuromuscular Research, Children's Hospital - LHSC

London, Ontario, Canada

Centro Clinico Nemo

Milan, , Italy

Countries

United States; Canada; Italy

Other Identifiers

HM20014211

Identifier Type: -

Identifier Source: org_study_id