Marika Pane1, Giorgia Coratti1, Valeria A Sansone2, Sonia Messina3, Claudio Bruno4, Michela Catteruccia5, Maria Sframeli3, Emilio Albamonte2, Marina Pedemonte4, Adele D'Amico5, Chiara Bravetti1, Beatrice Berti1, Giorgia Brigati4, Paola Tacchetti4, Francesca Salmin2, Roberto de Sanctis1, Simona Lucibello1, Marco Piastra6, Orazio Genovese6, Enrico Bertini5, Giuseppe Vita3, Francesco Danilo Tiziano7, Eugenio Mercuri1,8. 1. Paediatric Neurology and Neuromuscular Omnicentre Clinical Center, Agostino Gemelli University Polyclinic Foundation, Scientific Institute for Research and Health Care, Rome. 2. Neurorehabilitation Unit, University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital, Milan. 3. Department of Clinical and Experimental Medicine, University of Messina and Neuromuscular Omnicentre Clinical Center, Messina. 4. Center of Myology and Neurodegenerative Disorders, Giannina Gaslini Institute, Genoa. 5. Unit of Neuromuscular and Neurodegenerative Disorders, Baby Jesus Children's Hospital, Rome. 6. Pediatric Intensive Care Unit, Catholic University and Gemelli General Hospital, Agostino Gemelli University Polyclinic Foundation, Scientific Institute for Research and Health Care, Rome. 7. Institute of Genomic Medicine, Catholic University and Gemelli General Hospital, Agostino Gemelli University Polyclinic Foundation, Scientific Institute for Research and Health Care, Rome. 8. Pediatric Neurology Unit, Catholic University, Rome, Italy.
Abstract
OBJECTIVE: The aim of the study was to report 12-month changes after treatment with nusinersen in a cohort of 85 type I spinal muscular atrophy patients of ages ranging from 2 months to 15 years and 11 months. METHODS: All patients were assessed using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) and the Hammersmith Infant Neurological Examination-Section 2 (HINE-2). RESULTS: Two of the 85 patients had 1 SMN2 copy, 61 had 2 copies, and 18 had 3 copies. In 4 patients the SMN2 copy number was not available. At baseline, the mean CHOP INTEND scores ranged between 0 and 52 (mean = 15.66, standard deviation [SD] = ±13.48), and the mean HINE-2 score was between 0 and 5 (mean = 0.69, SD = ±1.23). There was a difference between baseline and the 12-month scores on both the CHOP INTEND and the HINE-2 for the whole group (p < 0.001), the subgroups with 2 SMN2 copies (p < 0.001), and those with 3 SMN2 copies (p < 0.001). The difference was found not only in patients younger than 210 days at baseline (p < 0.001) but also in those younger than 5 years on the CHOP INTEND and younger than 2 years on the HINE-2. INTERPRETATION: Our results, expanding the age range and the severity of type I patients treated with nusinersen over 1 year, provide additional data on the range of efficacy of the drug that will be helpful in making an informed decision on whether to start treatment in patients of different ages and severity. ANN NEUROL 2019;86:443-451.
OBJECTIVE: The aim of the study was to report 12-month changes after treatment with nusinersen in a cohort of 85 type I spinal muscular atrophypatients of ages ranging from 2 months to 15 years and 11 months. METHODS: All patients were assessed using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) and the Hammersmith Infant Neurological Examination-Section 2 (HINE-2). RESULTS: Two of the 85 patients had 1 SMN2 copy, 61 had 2 copies, and 18 had 3 copies. In 4 patients the SMN2 copy number was not available. At baseline, the mean CHOP INTEND scores ranged between 0 and 52 (mean = 15.66, standard deviation [SD] = ±13.48), and the mean HINE-2 score was between 0 and 5 (mean = 0.69, SD = ±1.23). There was a difference between baseline and the 12-month scores on both the CHOP INTEND and the HINE-2 for the whole group (p < 0.001), the subgroups with 2 SMN2 copies (p < 0.001), and those with 3 SMN2 copies (p < 0.001). The difference was found not only in patients younger than 210 days at baseline (p < 0.001) but also in those younger than 5 years on the CHOP INTEND and younger than 2 years on the HINE-2. INTERPRETATION: Our results, expanding the age range and the severity of type Ipatients treated with nusinersen over 1 year, provide additional data on the range of efficacy of the drug that will be helpful in making an informed decision on whether to start treatment in patients of different ages and severity. ANN NEUROL 2019;86:443-451.
Authors: Eugenio Mercuri; Charlotte J Sumner; Francesco Muntoni; Basil T Darras; Richard S Finkel Journal: Nat Rev Dis Primers Date: 2022-08-04 Impact factor: 65.038
Authors: Janbernd Kirschner; Nina Butoianu; Nathalie Goemans; Jana Haberlova; Anna Kostera-Pruszczyk; Eugenio Mercuri; W Ludo van der Pol; Susana Quijano-Roy; Thomas Sejersen; Eduardo F Tizzano; Andreas Ziegler; Laurent Servais; Francesco Muntoni Journal: Eur J Paediatr Neurol Date: 2020-07-09 Impact factor: 3.140
Authors: Maria Carmela Pera; Giorgia Coratti; Francesca Bovis; Marika Pane; Amy Pasternak; Jacqueline Montes; Valeria A Sansone; Sally Dunaway Young; Tina Duong; Sonia Messina; Irene Mizzoni; Adele D'Amico; Matthew Civitello; Allan M Glanzman; Claudio Bruno; Francesca Salmin; Simone Morando; Roberto De Sanctis; Maria Sframeli; Laura Antonaci; Anna Lia Frongia; Annemarie Rohwer; Mariacristina Scoto; Darryl C De Vivo; Basil T Darras; John Day; William Martens; Katia A Patanella; Enrico Bertini; Francesco Muntoni; Richard Finkel; Eugenio Mercuri Journal: Ann Clin Transl Neurol Date: 2021-06-24 Impact factor: 4.511