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DOI 10.1016/j.eclinm.2024.102967

Медицинская библиотека · EClinicalMedicine · 2024

Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016.

Pera Maria Carmela, Coratti Giorgia, Pane Marika, Masson Riccardo, Sansone Valeria Ada, D'Amico Adele, Catteruccia Michela, Agosto Caterina, Varone Antonio, Bruno Claudio, Messina Sonia, Ricci Federica, Bruno Irene, Procopio Elena, Pini Antonella, Siliquini Sabrina, Zanin Riccardo, Albamonte Emilio, Berardinelli Angela, Mastella Chiara, Baranello Giovanni, Previtali Stefano Carlo, Trabacca Antonio, Bravetti Chiara, Gagliardi Delio, Filosto Massimiliano, de Sanctis Roberto, Finkel Richard, Mercuri Eugenio, Italian SMA type I Study Group

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Аннотация

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.

Для цитирования: Pera Maria Carmela, Coratti Giorgia, Pane Marika, Masson Riccardo, Sansone Valeria Ada, D'Amico Adele, Catteruccia Michela, Agosto Caterina, Varone Antonio, Bruno Claudio, Messina Sonia, Ricci Federica, Bruno Irene, Procopio Elena, Pini Antonella, Siliquini Sabrina, Zanin Riccardo, Albamonte Emilio, Berardinelli Angela, Mastella Chiara, Baranello Giovanni, Previtali Stefano Carlo, Trabacca Antonio, Bravetti Chiara, Gagliardi Delio, Filosto Massimiliano, de Sanctis Roberto, Finkel Richard, Mercuri Eugenio, Italian SMA type I Study Group. Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016.. EClinicalMedicine. 2024. DOI: 10.1016/j.eclinm.2024.102967.
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