Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy

Congenital Myotonic Dystrophy Clinical Trial

— TREAT-CDM  

Official title:

Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03059264
• Other study ID #: HM20014211
• Status: Recruiting
• Start date: December 14, 2016
• Est. completion date: July 15, 2024

Study information

• Verified date: February 2024
• Source: Virginia Commonwealth University
• Contact: Ruby Langeslay, MD
• Phone: 804-828-8481
• Email: ruby.langeslay[@]vcuhealth.org
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 150
• Est. completion date: July 15, 2024
• Est. primary completion date: June 30, 2024
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 0 Years to 15 Years

Eligibility

CDM Group

Inclusion Criteria:

• Age 0-15 yrs

• Diagnosis of CDM, based on symptoms and genetic testing of expanded trinucleotide repeats.

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

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

Related Conditions & MeSH terms

• Congenital Myotonic Dystrophy
• Myotonic Dystrophy

Intervention

Other:
• Natural history
Longitudinal disease progression

Locations

Country	Name	City	State
Canada	Pediatric Neuromuscular Research, Children's Hospital - LHSC	London	Ontario
Italy	Centro Clinico Nemo	Milano
United States	Virginia Commonwealth University	Richmond	Virginia

Sponsors (3)

Lead Sponsor	Collaborator
Virginia Commonwealth University	Fondazione Serena Onlus - Centro Clinico NeMO Milano, University of Western Ontario, Canada, Children's Health Research Institute

Countries where clinical trial is conducted

United States,  Canada,  Italy, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Grip Strength	Measure of force generated by hand grip	1 year
Secondary	Congenital and Childhood Onset Myotonic Dystrophy Health Index (CCMDHI)	Disease specific patient and parent reported outcome measure of quality of life	1 year
Secondary	6-minute walk	Assess distance walked over 6 minutes as a sub-maximal test of aerobic capacity/endurance	1 year
Secondary	Behavior Rating Inventory of Executive Function (BRIEF)	An 86-item parent/caregiver-proxy and teacher-proxy rating form of executive function skills in every-day settings such as school, home, and social situations	1 year
Secondary	Lip Force	Measure of force generation by orbicularis oris	1 year