Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016Research in context
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...
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Elsevier
2024-12-01
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2589537024005467 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Maria Carmela Pera |
| collection | DOAJ |
| description | 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 < .05. Findings: 241 infants (98%) had type I SMA. Mean follow-up was 3.48 years (SD 2.33). Among type I patients, 42/241 did not survive (25 untreated), while 199 were alive at last follow-up (all treated; mean treatment age 0.6 years), with 25 needing >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. |
| format | Article |
| id | doaj-art-b5e62da87da8469dae511ce87cf7e38d |
| institution | DOAJ |
| issn | 2589-5370 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | EClinicalMedicine |
| spelling | doaj-art-b5e62da87da8469dae511ce87cf7e38d2025-08-20T02:51:42ZengElsevierEClinicalMedicine2589-53702024-12-017810296710.1016/j.eclinm.2024.102967Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016Research in contextMaria Carmela Pera0Giorgia Coratti1Marika Pane2Riccardo Masson3Valeria Ada Sansone4Adele D’Amico5Michela Catteruccia6Caterina Agosto7Antonio Varone8Claudio Bruno9Sonia Messina10Federica Ricci11Irene Bruno12Elena Procopio13Antonella Pini14Sabrina Siliquini15Riccardo Zanin16Emilio Albamonte17Angela Berardinelli18Chiara Mastella19Giovanni Baranello20Stefano Carlo Previtali21Antonio Trabacca22Chiara Bravetti23Delio Gagliardi24Massimiliano Filosto25Roberto de Sanctis26Richard Finkel27Eugenio Mercuri28Alice GardaniMaria Antonella CostantinoIlaria BitettiMatteo Tuana FranguelMaria SframeliAndrea MagnolatoMyriam RausaElena PagliacciaMirea NegriCesare Del MonacoBeatrice BertiDaniela LeoneConcetta PalermoEnrico BertiniAntonella LongoClaudia DosiSara CarnicellaSimone MorandoNoemi BrolattiAlessandra VentoIlaria CavallinaRoberta FerranteLaura BernasconiMarco PiastraOrazio GenoveseNicola ForcinaFrancesca BenedettiSimona DamioliLavinia FanelliGiulia StancaGiulia NorciaMatteo SacchiniChiara TicciElena BrigantiPediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, ItalyPediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, ItalyPediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, ItalyFondazione IRCCS Istituto Neurologico Carlo Besta, Developmental Neurology Unit, Milan, ItalyThe NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, ItalyDepartment of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children’s Hospital, IRCCS, Rome, ItalyDepartment of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children’s Hospital, IRCCS, Rome, ItalyDepartment of Women's and Children's Health - University of Padua, Padua, ItalyPediatric Neurology, Santobono-Pausilipon Children's Hospital, Naples, ItalyCenter of Translational and Experimental Myology, and Dept of Neuroscience, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health, University of Genova, IRCCS Istituto Giannina Gaslini, Genova, ItalyUnit of Neurodegenerative Disorders, Department of Clinical and Experimental Medicine, University Hospital of Messina, Messina, ItalyChild Neuropsychiatry Unit, Department of Public Health and Paediatric Sciences, University of Turin, Turin, ItalyInstitute for Maternal and Child Health, IRCCS, Burlo Garofolo, Trieste, ItalyMetabolic and Muscular Diseases Unit, Meyer Children’s Hospital IRCCS, ItalyPediatric Neuromuscular Unit, IRCCS Institute of the Neurological Sciences of Bologna, ItalyChild Neuropsychiatry Unit, Paediatric Hospital G Salesi, Ancona, ItalyFondazione IRCCS Istituto Neurologico Carlo Besta, Developmental Neurology Unit, Milan, ItalyThe NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, ItalyIRCCS C, Mondino Foundation, Pavia, ItalySAPRE-UONPIA, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico Milan, ItalyDubowitz 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, UKInstitute of Experimental Neurology (INSPE), Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, ItalyUnità 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, ItalyPediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, ItalyPediatric Neurology Unit, Pediatric Hospital “Giovanni XXIII”, Bari, ItalyDepartment of Clinical and Experimental Sciences, University of Brescia, Italy; NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, ItalyPediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, ItalyDepartment of Pediatric Medicine, St. Jude Children’s Research Hospital, Memphis, TN 38105, USAPediatric 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.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 < .05. Findings: 241 infants (98%) had type I SMA. Mean follow-up was 3.48 years (SD 2.33). Among type I patients, 42/241 did not survive (25 untreated), while 199 were alive at last follow-up (all treated; mean treatment age 0.6 years), with 25 needing >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.http://www.sciencedirect.com/science/article/pii/S2589537024005467Spinal muscular atrophyTherapyNatural historySurvival |
| spellingShingle | 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 Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016Research in context EClinicalMedicine Spinal muscular atrophy Therapy Natural history Survival |
| title | Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016Research in context |
| title_full | Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016Research in context |
| title_fullStr | Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016Research in context |
| title_full_unstemmed | Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016Research in context |
| title_short | Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016Research in context |
| title_sort | type i spinal muscular atrophy and disease modifying treatments a nationwide study in children born since 2016research in context |
| topic | Spinal muscular atrophy Therapy Natural history Survival |
| url | http://www.sciencedirect.com/science/article/pii/S2589537024005467 |
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