Giovanni Baranello, Basil T Darras, John W Day, Nicolas Deconinck, Andrea Klein, Riccardo Masson, Eugenio Mercuri, Kristy Rose, Muna El-Khairi, Marianne Gerber, Ksenija Gorni, Omar Khwaja, Heidemarie Kletzl, Renata S Scalco, Timothy Seabrook, Paulo Fontoura, Laurent Servais
BACKGROUND: Type 1 spinal muscular atrophy is a rare, progressive neuromuscular disease that is caused by low levels of functional survival of motor neuron (SMN) protein. Risdiplam is an orally administered, small molecule that modifies SMN2 pre-messenger RNA splicing and increases levels of functional SMN protein. METHODS: We report the results of part 1 of a two-part, phase 2-3, open-label study of risdiplam in infants 1 to 7 months of age who had type 1 spinal muscular atrophy, which is characterized by the infant not attaining the ability to sit without support...
March 11, 2021: New England Journal of Medicine