Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy

Active, not recruiting

• Conditions: Congenital Myotonic Dystrophy
• Interventions: Other: Natural history

• Registration Number: NCT03059264
• Lead Sponsor: Virginia Commonwealth University

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.

Detailed Description

Not available

Basic Information
|
Recruitment & Eligibility
|
Study & Design
|
Trial Locations

Study Timeline

• Study Start: 2016-12-14
• Study First Submitted: 2017-01-25
• Study First Submitted QC: 2017-02-16
• Study First Posted: 2017-02-23
• Status Verified: 2024-10
• Last Update Submitted: 2024-10-02
• Last Update Posted: 2024-10-04
• Primary Completion: 2025-03-30
• Study Completion: 2025-03-30

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 100

Inclusion Criteria

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

Read More

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

Read More

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
CDM	Natural history	Children with Congenital Myotonic Dystrophy
Control	Natural history	Healthy Children

Primary Outcome Measures

Name	Time	Method
Grip Strength	1 year	Measure of force generated by hand grip

Secondary Outcome Measures

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

Trial Locations

Locations (3)

Centro Clinico Nemo; 🇮🇹 Milano, Italy

Virginia Commonwealth University; 🇺🇸 Richmond, Virginia, United States

Pediatric Neuromuscular Research, Children's Hospital - LHSC; 🇨🇦 London, Ontario, Canada