Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy (TREAT-CDM)

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.

Study Overview

• Status: Recruiting
• Conditions: Congenital Myotonic Dystrophy
• Intervention / Treatment: Other: Natural history

• Study Type: Observational
• Enrollment (Estimated): 150

Contacts and Locations

• Study Contact: Name: Ruby Langeslay, MD; Phone Number: 804-828-8481; Email: ruby.langeslay@vcuhealth.org
• Study Contact Backup: Name: Jennifer Raymond; Phone Number: 804-828-6318; Email: jennifer.raymond@vcuhealth.org

Study Locations

• Canada
  • Ontario
    • London, Ontario, Canada
      • Completed
      • Pediatric Neuromuscular Research, Children's Hospital - LHSC
• Italy
  • Milano, Italy, 20162
    • Recruiting
    • Centro Clinico NeMO
    • Contact: Alessandra Di Bari; Email: alessandra.dibari@centrocliniconemo.it
    • Contact: Luca Mauro; Email: luca.mauro@centrocliniconemo.it
    • Principal Investigator: Valeria Sansone, MD
• United States
  • Virginia
    • Richmond, Virginia, United States, 23298
      • Recruiting
      • Virginia Commonwealth University
      • Contact: Jodie Howell, LPN; Phone Number: 804-592-1859; Email: jodie.howell@vcuhealth.org
      • Principal Investigator: Nicholas E Johnson, MD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 second to 15 years (Child)
• Accepts Healthy Volunteers: Yes

• Sampling Method: Probability Sample

Study Population

This study proposes a longitudinal evaluation of 100 children with CDM and 50 healthy controls, stratified into the following age cohorts: 0-2 years, 11 months; 3 years to 6 years, 11 months; and 7 years and older. The age cohorts are created to ensure an even distribution across all ages.

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
CDM; Children with Congenital Myotonic Dystrophy	Other: Natural history; Longitudinal disease progression
Control; Healthy Children	Other: Natural history; Longitudinal disease progression

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Grip Strength	Measure of force generated by hand grip	1 year

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Congenital and Childhood Onset Myotonic Dystrophy Health Index (CCMDHI)	Disease specific patient and parent reported outcome measure of quality of life	1 year
6-minute walk	Assess distance walked over 6 minutes as a sub-maximal test of aerobic capacity/endurance	1 year
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
Lip Force	Measure of force generation by orbicularis oris	1 year

Collaborators and Investigators

• Sponsor: Virginia Commonwealth University
• Collaborators: University of Western Ontario, Canada, Children's Health Research Institute; Fondazione Serena Onlus - Centro Clinico NeMO Milano
• Investigators: Principal Investigator: Nicholas Johnson, MD, Virginia Commonwealth University

Study record dates

Study Major Dates

• Study Start (Actual): December 14, 2016
• Primary Completion (Estimated): June 30, 2024
• Study Completion (Estimated): July 15, 2024

Study Registration Dates

• First Submitted: January 25, 2017
• First Submitted That Met QC Criteria: February 16, 2017
• First Posted (Actual): February 23, 2017

Study Record Updates

• Last Update Posted (Actual): February 15, 2024
• Last Update Submitted That Met QC Criteria: February 13, 2024
• Last Verified: February 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Genetic Diseases, Inborn; Musculoskeletal Diseases; Muscular Diseases; Neuromuscular Diseases; Neurodegenerative Diseases; Muscular Disorders, Atrophic; Heredodegenerative Disorders, Nervous System; Muscular Dystrophies; Myotonic Disorders; Myotonic Dystrophy
• Other Study ID Numbers: HM20014211

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No