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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 22, 2018
Sponsor:
Collaborators:
Neuromuscular Omnicomprehensive Clinical Center, Milan Italy
University of Western Ontario, Canada, Children's Health Research Institute
Information provided by (Responsible Party):
Virginia Commonwealth University

Tracking Information
First Submitted Date January 25, 2017
First Posted Date February 23, 2017
Last Update Posted Date October 22, 2018
Actual Study Start Date December 14, 2016
Estimated Primary Completion Date December 31, 2019   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: February 16, 2017)
Grip Strength [ Time Frame: 1 year ]
Measure of force generated by hand grip
Original Primary Outcome Measures Same as current
Change History Complete list of historical versions of study NCT03059264 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures
 (submitted: February 16, 2017)
  • 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
  • 6-minute walk [ Time Frame: 1 year ]
    Assess distance walked over 6 minutes as a sub-maximal test of aerobic capacity/endurance
  • 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
  • Lip Force [ Time Frame: 1 year ]
    Measure of force generation by orbicularis oris
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy
Official Title Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy
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 Provided
Study Type Observational [Patient Registry]
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration 3 Years
Biospecimen Retention:   Samples With DNA
Description:
Blood
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.
Condition Congenital Myotonic Dystrophy
Intervention Other: Natural history
Longitudinal disease progression
Study Groups/Cohorts
  • CDM
    Children with Congenital Myotonic Dystrophy
    Intervention: Other: Natural history
  • Control
    Healthy Children
    Intervention: Other: Natural history
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: February 16, 2017)
150
Original Estimated Enrollment Same as current
Estimated Study Completion Date December 31, 2019
Estimated Primary Completion Date December 31, 2019   (Final data collection date for primary outcome measure)
Eligibility Criteria

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
Sex/Gender
Sexes Eligible for Study: All
Ages up to 15 Years   (Child)
Accepts Healthy Volunteers Yes
Contacts
Contact: Nicholas Johnson, MD 804-628-6439 nicholas.johnson@vcuhealth.org
Contact: Brittney A Holmberg 804-628-6439 brittney.holmberg@vcuhealth.org
Listed Location Countries Canada,   Italy,   United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT03059264
Other Study ID Numbers HM20014211
Has Data Monitoring Committee Yes
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: No
Responsible Party Virginia Commonwealth University
Study Sponsor Virginia Commonwealth University
Collaborators
  • Neuromuscular Omnicomprehensive Clinical Center, Milan Italy
  • University of Western Ontario, Canada, Children's Health Research Institute
Investigators
Principal Investigator: Nicholas Johnson, MD Virginia Commonwealth University
PRS Account Virginia Commonwealth University
Verification Date October 2018