EClinicalMedicine (Dec 2024)
Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016Research in context
- Maria Carmela Pera,
- Giorgia Coratti,
- Marika Pane,
- Riccardo Masson,
- Valeria Ada Sansone,
- Adele D’Amico,
- Michela Catteruccia,
- Caterina Agosto,
- Antonio Varone,
- Claudio Bruno,
- Sonia Messina,
- Federica Ricci,
- Irene Bruno,
- Elena Procopio,
- Antonella Pini,
- Sabrina Siliquini,
- Riccardo Zanin,
- Emilio Albamonte,
- Angela Berardinelli,
- Chiara Mastella,
- Giovanni Baranello,
- Stefano Carlo Previtali,
- Antonio Trabacca,
- Chiara Bravetti,
- Delio Gagliardi,
- Massimiliano Filosto,
- Roberto de Sanctis,
- Richard Finkel,
- Eugenio Mercuri,
- Alice Gardani,
- Maria Antonella Costantino,
- Ilaria Bitetti,
- Matteo Tuana Franguel,
- Maria Sframeli,
- Andrea Magnolato,
- Myriam Rausa,
- Elena Pagliaccia,
- Mirea Negri,
- Cesare Del Monaco,
- Beatrice Berti,
- Daniela Leone,
- Concetta Palermo,
- Enrico Bertini,
- Antonella Longo,
- Claudia Dosi,
- Sara Carnicella,
- Simone Morando,
- Noemi Brolatti,
- Alessandra Vento,
- Ilaria Cavallina,
- Roberta Ferrante,
- Laura Bernasconi,
- Marco Piastra,
- Orazio Genovese,
- Nicola Forcina,
- Francesca Benedetti,
- Simona Damioli,
- Lavinia Fanelli,
- Giulia Stanca,
- Giulia Norcia,
- Matteo Sacchini,
- Chiara Ticci,
- Elena Briganti
Affiliations
- Maria Carmela Pera
- Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy
- Giorgia Coratti
- Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy
- Marika Pane
- Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy
- Riccardo Masson
- Fondazione IRCCS Istituto Neurologico Carlo Besta, Developmental Neurology Unit, Milan, Italy
- Valeria Ada Sansone
- The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy
- Adele D’Amico
- Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy
- Michela Catteruccia
- Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy
- Caterina Agosto
- Department of Women's and Children's Health - University of Padua, Padua, Italy
- Antonio Varone
- Pediatric Neurology, Santobono-Pausilipon Children's Hospital, Naples, Italy
- Claudio Bruno
- Center of Translational and Experimental Myology, and Dept of Neuroscience, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health, University of Genova, IRCCS Istituto Giannina Gaslini, Genova, Italy
- Sonia Messina
- Unit of Neurodegenerative Disorders, Department of Clinical and Experimental Medicine, University Hospital of Messina, Messina, Italy
- Federica Ricci
- Child Neuropsychiatry Unit, Department of Public Health and Paediatric Sciences, University of Turin, Turin, Italy
- Irene Bruno
- Institute for Maternal and Child Health, IRCCS, Burlo Garofolo, Trieste, Italy
- Elena Procopio
- Metabolic and Muscular Diseases Unit, Meyer Children’s Hospital IRCCS, Italy
- Antonella Pini
- Pediatric Neuromuscular Unit, IRCCS Institute of the Neurological Sciences of Bologna, Italy
- Sabrina Siliquini
- Child Neuropsychiatry Unit, Paediatric Hospital G Salesi, Ancona, Italy
- Riccardo Zanin
- Fondazione IRCCS Istituto Neurologico Carlo Besta, Developmental Neurology Unit, Milan, Italy
- Emilio Albamonte
- The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy
- Angela Berardinelli
- IRCCS C, Mondino Foundation, Pavia, Italy
- Chiara Mastella
- SAPRE-UONPIA, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico Milan, Italy
- Giovanni Baranello
- Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health Great Ormond Street Hospital NHS Foundation Trust, London, UK; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, London, UK
- Stefano Carlo Previtali
- Institute of Experimental Neurology (INSPE), Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy
- Antonio Trabacca
- Unità per le Disabilità Gravi dell’età Evolutiva e Giovane Adulta (Neurologia dello Sviluppo e Neuroriabilitazione), Polo Ospedaliero Scientifico di Neuroriabilitazione, Associazione La Nostra Famiglia – IRCCS “E; Medea”, Brindisi, Italy
- Chiara Bravetti
- Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy
- Delio Gagliardi
- Pediatric Neurology Unit, Pediatric Hospital “Giovanni XXIII”, Bari, Italy
- Massimiliano Filosto
- Department of Clinical and Experimental Sciences, University of Brescia, Italy; NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy
- Roberto de Sanctis
- Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy
- Richard Finkel
- Department of Pediatric Medicine, St. Jude Children’s Research Hospital, Memphis, TN 38105, USA
- Eugenio Mercuri
- Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Corresponding author. Pediatric Neurology, Largo francesco Vito 1, Università Cattolica del Sacro Cuore, Rome 00168, Italy.
- Alice Gardani
- Maria Antonella Costantino
- Ilaria Bitetti
- Matteo Tuana Franguel
- Maria Sframeli
- Andrea Magnolato
- Myriam Rausa
- Elena Pagliaccia
- Mirea Negri
- Cesare Del Monaco
- Beatrice Berti
- Daniela Leone
- Concetta Palermo
- Enrico Bertini
- Antonella Longo
- Claudia Dosi
- Sara Carnicella
- Simone Morando
- Noemi Brolatti
- Alessandra Vento
- Ilaria Cavallina
- Roberta Ferrante
- Laura Bernasconi
- Marco Piastra
- Orazio Genovese
- Nicola Forcina
- Francesca Benedetti
- Simona Damioli
- Lavinia Fanelli
- Giulia Stanca
- Giulia Norcia
- Matteo Sacchini
- Chiara Ticci
- Elena Briganti
- Journal volume & issue
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Vol. 78
p. 102967
Abstract
Summary: Background: The advent of disease-modifying treatments (DMT) has changed natural history in 5q Spinal muscular atrophy (SMA). The aim of this study was to report survival and functional aspects in all the Italian type I children born since 2016. Methods: The study included all symptomatic children with type I SMA born since January 1st, 2016, when DMTs became available in Italy. All the Italian SMA referral centers provided data on survival and motor, respiratory, and nutritional status. To compare survival rate pre and post DMTs approval, we also included similar data from SMA I patients born between January 1st, 2010, and December 31st, 2015. A two-proportion z-test was conducted to compare the two cohorts. The significance level was set at p 16 h/day ventilation or tracheostomy with continuous invasive ventilation. 130 of the 199 survivors (65%) achieved independent sitting, and 175 (87.9%) did not require tube feeding. Interpretation: Our study provides a picture of the ‘new natural history’ of type I SMA, confirming the impact of the new therapies on the progression of type I with longer survival r and has better motor, respiratory and nutritional. Funding: This research was partially funded by grants from the Italian Ministry of Health.
