The outcome of two SMA cases treated with nusinersen at seven hours and at three days of life: the earliest ever |
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| Institution: | 1. Department of Pediatrics, Marmara School of Medicine, ?stanbul, Turkey;2. Department of Pediatrics, Hacettepe School of Medicine, Ankara, Turkey;3. Department of Obstetrics and Gynaecology, Marmara School of Medicine, ?stanbul, Turkey;4. Department of Pediatrics, Yeditepe School of Medicine, ?stanbul, Turkey;5. Department of Physical Medicine, Marmara School of Medicine, ?stanbul, Turkey;6. Department of Electrophysiology, Yeditepe School of Medicine, ?stanbul, Turkey;1. Department of Neurology, Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow, G51 4TF, United Kingdom;2. Long Term Ventilation Unit, Department of Respiratory Medicine, Queen Elizabeth University Hospital, Glasgow, G51 4TF, United Kingdom;1. Unidad de Neurología Pediátrica, División de Pediatría, Escuela de Medicina, Pontificia Universidad Católica de Chile, Diagonal Paraguay 362, Santiago, Región Metropolitana 8330077, Chile;5. Laboratorio de Virología Molecular, Instituto Milenio de Inmunología e Inmunoterapia, Departamento de Enfermedades Infecciosas e Inmunología Pediátrica, Centro de Investigaciones Médicas, Escuela de Medicina, Pontificia Universidad Católica de Chile, Avenida Libertador Bernardo O''Higgins 340, 8331150 Santiago, Chile;1. Health Management Center, the Third Xiangya Hospital, Central South University, Changsha, China;2. Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, China;3. Provincial Key Laboratory of Medical Genetics, Central South University, Changsha, China;4. Department of Neurology, Xiangya Hospital, Central South University, Changsha, China;1. Department of Neurology, Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Amsterdam, the Netherlands;2. Department of Neuropathology, Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Amsterdam, the Netherlands;1. Neurology Department, Raul Carrea Institute for Neurological Research (FLENI), Montañeses 2325, Buenos Aires 1428, Argentina;2. Hospital Nacional Alejandro Posadas, Argentina;3. Hospital Italiano de Buenos Aires, Argentina;4. Sanatorio Güemes, Argentina;5. Sanatorio de los Arcos, Argentina;6. Hospital J.M. Ramos Mejía, Argentina;1. Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy;2. Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome;3. Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children''s Hospital, IRCCS, Rome, Italy;4. Center of Translational and Experimental Myology, and Dept. of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, IRCCS Istituto Giannina Gaslini, Genova, Italy;5. Biostatistics Unit, Department of Health Sciences, University of Genoa, Genoa, Italy;6. Department of Radiological and Hematological Sciences Fondazione, Policlinico Universitario A. Gemelli, IRCCS Università Cattolica del Sacro Cuore, Largo A. Gemelli, 100168, Rome, Italy;7. Department of Radiology, IRCCS Istituto Giannina Gaslini, Genova, Italy;8. Department of Trauma and Orthopaedics, Sant''Andrea Hospital, Sapienza University of Rome, Rome, Italy; Unicamillus, Saint Camillus International University of Health Sciences, Rome, Italy |
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| Abstract: | New molecular therapies are available for the treatment of spinal muscular atrophy (SMA) but early intervention is required. We report two cases that were diagnosed prenatally, where treatment with nusinersen was initiated within 7 h and three days respectively. The children were followed up for 13 months and almost six years respectively. Both children have developed within entirely normal centiles, indicating that initiating treatment immediately after birth, as in these cases, is essential for a good outcome. |
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