TRIAL READINESS AND ENDPOINT ASSESSMENT IN CONGENITAL AND CHILDHOOD MYOTONIC DYSTROPHY

Children with congenital myotonic dystrophy (DM1) present at birth respiratory failure, feeding difficulties and hypotonia, with a mortality rate of 30% in the first year of life. In the infantile onset forms, the manifestation of symptoms begins later, but soon leads to behavioral and learning difficulties. To date, the possibility of conducting a therapeutic trial in children with MD1 is limited by the lack of available data on clinical endpoints and appropriate biomarkers. The aim of this project is to coordinate the network of pediatric neurologists who follow patients with DM1, in a common effort to standardize the protocols and procedures to be applied in the care of these children.

The objectives of this study are: 1) to standardize clinical protocols for the monitoring of the functional and pathological status in these children through a combination of measures of physical strength and functional and health indices, to provide natural history data; 2) identify potential biomarkers.

The purpose of this data collection is to collect functional measures and clinical information over time to define clinically significant measures in preparation for international therapeutic trials.