NCT03059264

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.

Trial Health

90
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
100

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Dec 2016

Longer than P75 for all trials

Geographic Reach
3 countries

3 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

December 14, 2016

Completed
1 month until next milestone

First Submitted

Initial submission to the registry

January 25, 2017

Completed
29 days until next milestone

First Posted

Study publicly available on registry

February 23, 2017

Completed
4.8 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 8, 2021

Completed
3.1 years until next milestone

Study Completion

Last participant's last visit for all outcomes

January 27, 2025

Completed
Last Updated

March 11, 2025

Status Verified

March 1, 2025

Enrollment Period

5 years

First QC Date

January 25, 2017

Last Update Submit

March 7, 2025

Conditions

Congenital Myotonic Dystrophy

Outcome Measures

Primary Outcomes (1)

  • Grip Strength

    Measure of force generated by hand grip

    1 year

Secondary Outcomes (4)

  • Congenital and Childhood Onset Myotonic Dystrophy Health Index (CCMDHI)

    1 year

  • 6-minute walk

    1 year

  • Behavior Rating Inventory of Executive Function (BRIEF)

    1 year

  • Lip Force

    1 year

Study Arms (2)

CDM

Children with Congenital Myotonic Dystrophy

Other: Natural history

Control

Healthy Children

Other: Natural history

Interventions

Natural historyOTHER

Longitudinal disease progression

CDMControl

Eligibility Criteria

Age0 Years - 15 Years
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17)
Sampling MethodProbability 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.

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (3)

Virginia Commonwealth University

Richmond, Virginia, 23298, United States

Location

Pediatric Neuromuscular Research, Children's Hospital - LHSC

London, Ontario, Canada

Location

Centro Clinico Nemo

Milan, 20162, Italy

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood

MeSH Terms

Conditions

Myotonic Dystrophy

Condition Hierarchy (Ancestors)

Muscular DystrophiesMuscular Disorders, AtrophicMuscular DiseasesMusculoskeletal DiseasesMyotonic DisordersHeredodegenerative Disorders, Nervous SystemNeurodegenerative DiseasesNervous System DiseasesNeuromuscular DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

  • Nicholas Johnson, MD

    Virginia Commonwealth University

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Target Duration
2 Years
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

January 25, 2017

First Posted

February 23, 2017

Study Start

December 14, 2016

Primary Completion

December 8, 2021

Study Completion

January 27, 2025

Last Updated

March 11, 2025

Record last verified: 2025-03

Data Sharing

IPD Sharing
Will not share

Locations

US(1)CA(1)IT(1)