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

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ClinicalTrials.gov Identifier: NCT03059264
Recruitment Status : Recruiting
First Posted : February 23, 2017
Last Update Posted : October 31, 2022
Neuromuscular Omnicomprehensive Clinical Center, Milan Italy
University of Western Ontario, Canada, Children's Health Research Institute
Information provided by (Responsible Party):
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.

Condition or disease Intervention/treatment
Congenital Myotonic Dystrophy Other: Natural history

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 150 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 3 Years
Official Title: Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy
Actual Study Start Date : December 14, 2016
Estimated Primary Completion Date : June 30, 2023
Estimated Study Completion Date : June 30, 2023

Group/Cohort Intervention/treatment
Children with Congenital Myotonic Dystrophy
Other: Natural history
Longitudinal disease progression

Healthy Children
Other: Natural history
Longitudinal disease progression

Primary Outcome Measures :
  1. Grip Strength [ Time Frame: 1 year ]
    Measure of force generated by hand grip

Secondary Outcome Measures :
  1. Congenital and Childhood Onset Myotonic Dystrophy Health Index (CCMDHI) [ Time Frame: 1 year ]
    Disease specific patient and parent reported outcome measure of quality of life

  2. 6-minute walk [ Time Frame: 1 year ]
    Assess distance walked over 6 minutes as a sub-maximal test of aerobic capacity/endurance

  3. Behavior Rating Inventory of Executive Function (BRIEF) [ Time Frame: 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

  4. Lip Force [ Time Frame: 1 year ]
    Measure of force generation by orbicularis oris

Biospecimen Retention:   Samples With DNA

Information from the National Library of Medicine

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Ages Eligible for Study:   0 Years to 15 Years   (Child)
Sexes Eligible for Study:   All
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.

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03059264

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Contact: Ruby Langeslay, MD 804-828-8481 ruby.langeslay@vcuhealth.org
Contact: Jennifer Raymond 804-828-6318 jennifer.raymond@vcuhealth.org

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United States, Virginia
Virginia Commonwealth University Recruiting
Richmond, Virginia, United States, 23298
Contact: Jodie Howell, LPN    804-592-1859    jodie.howell@vcuhealth.org   
Principal Investigator: Nicholas E Johnson, MD         
Canada, Ontario
Pediatric Neuromuscular Research, Children's Hospital - LHSC Recruiting
London, Ontario, Canada
Contact: Delia Ceballos       Delia.CeballosSaenz@lhsc.on.ca   
Centro Clinico Nemo Recruiting
Milano, Italy, 20162
Contact: Luca Mauro       luca.mauro@centrocliniconemo.it   
Contact: Alessandra Di Bari       alessandra.dibari@centrocliniconemo.it   
Principal Investigator: Valeria Sansone, MD         
Sponsors and Collaborators
Virginia Commonwealth University
Neuromuscular Omnicomprehensive Clinical Center, Milan Italy
University of Western Ontario, Canada, Children's Health Research Institute
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Principal Investigator: Nicholas Johnson, MD Virginia Commonwealth University
Additional Information:

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Responsible Party: Virginia Commonwealth University
ClinicalTrials.gov Identifier: NCT03059264    
Other Study ID Numbers: HM20014211
First Posted: February 23, 2017    Key Record Dates
Last Update Posted: October 31, 2022
Last Verified: October 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Myotonic Dystrophy
Muscular Dystrophies
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Myotonic Disorders
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Nervous System Diseases
Neuromuscular Diseases
Genetic Diseases, Inborn