Clinical Trial: Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational [Patient Registry]

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 Summary:
Sponsor: University of Utah

Current Primary Outcome: Grip Strength [ Time Frame: 1 year ]

Measure of force generated by hand grip


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • 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: Same as current

Information By: University of Utah

Dates:
Date Received: January 25, 2017
Date Started: December 14, 2016
Date Completion: December 31, 2018
Last Updated: February 16, 2017
Last Verified: February 2017