N Engl J Med 2021 Jul;385(5):427-435
From the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (R.M., G.B.), and the Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa (C.B.) - both in Italy; the Department of Developmental Neurology, Medical University of Gdańsk, Gdańsk, Poland (M.M.-B.); the Paediatric Gait Analysis Service of New South Wales, the Children's Hospital at Westmead and the University of Sydney, Sydney (K.R.); the Department of Pediatrics, Peking University First Hospital, Beijing (H.X.), and Children's Hospital of Fudan University, Shanghai (Y.W.) - both in China; the Department of Neurology, Faculdade de Medicina, Universidade de São Paulo, São Paulo (E.Z.); the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, University College London Great Ormond Street Institute of Child Health, and Great Ormond Street Hospital for Children NHS Foundation Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, the Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; Russian Children Neuromuscular Center, Veltischev Clinical Pediatric Research Institute, Pirogov Russian National Research Medical University, Moscow (D.V.); Pharma Development, Safety (M.G.), Product Development Medical Affairs - Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K.) - both in Basel, Switzerland; the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, the Department of Pediatrics, University Hospital Liege, University of Liege, Liege, Belgium (L.S.); and I-Motion, Institut de Myologie, Assistance Publique Hôpitaux de Paris, Hôpital Armand Trousseau, Paris (L.S.).
Background: Type 1 spinal muscular atrophy (SMA) is a progressive neuromuscular disease characterized by an onset at 6 months of age or younger, an inability to sit without support, and deficient levels of survival of motor neuron (SMN) protein. Risdiplam is an orally administered small molecule that modifies pre-messenger RNA splicing and increases levels of functional SMN protein in blood.
Methods: We conducted an open-label study of risdiplam in infants with type 1 SMA who were 1 to 7 months of age at enrollment. Read More