Journal article

Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study

Darryl C De Vivo, Enrico Bertini, Kathryn J Swoboda, Wuh-Liang Hwu, Thomas O Crawford, Richard S Finkel, Janbernd Kirschner, Nancy L Kuntz, Julie A Parsons, Monique M Ryan, Russell J Butterfield, Haluk Topaloglu, Tawfeg Ben-Omran, Valeria A Sansone, Yuh-Jyh Jong, Francy Shu, John F Staropoli, Douglas Kerr, Alfred W Sandrock, Christopher Stebbins Show all

Neuromuscular Disorders | PERGAMON-ELSEVIER SCIENCE LTD | Published : 2019

Abstract

Spinal muscular atrophy (SMA) is a neurodegenerative disease associated with severe muscle atrophy and weakness in the limbs and trunk. We report interim efficacy and safety outcomes as of March 29, 2019 in 25 children with genetically diagnosed SMA who first received nusinersen in infancy while presymptomatic in the ongoing Phase 2, multisite, open-label, single-arm NURTURE trial. Fifteen children have two SMN2 copies and 10 have three SMN2 copies. At last visit, children were median (range) 34.8 [25.7-45.4] months of age and past the expected age of symptom onset for SMA Types I or II; all were alive and none required tracheostomy or permanent ventilation. Four (16%) participants with two ..

View full abstract

Grants

Funding Acknowledgements

The authors thank the patients who are participating in this study and their parents/guardians and family members, without whom this effort cannot succeed. The authors also thank the people who are contributing to this study, including the study site principal investigators, clinical monitors, study coordinators, physical therapists, and laboratory technicians. Biogen provided funding for medical writing support in the development of this manuscript; Susan Chow, PhD, and Allison Green, PhD, from Excel Scientific Solutions wrote the first draft of the manuscript based on input from authors, and Nathaniel Hoover from Excel Scientific Solutions copyedited and styled the manuscript per journal requirements. The authors had full editorial control of the manuscript and provided their final approval of all content.