Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey

Giorgia Coratti; Martina Ricci; Anna Capasso; Adele D'amico; Valeria Sansone; Claudio Bruno; Sonia Messina; Federica Ricci; Tiziana Mongini; Michela Coccia; Gabriele Siciliano; Elena Pegoraro; Mara Turri; Massimiliano Filosto; Giacomo Comi; Riccardo Masson; Lorenzo Maggi; Irene Bruno; Maria Grazia D'Angelo; Antonio Trabacca; Veria Vacchiano; Maria Donati; Isabella Simone; Lucia Ruggiero; Antonio Varone; Lorenzo Verriello; Angela Berardinelli; Caterina Agosto; Antonella Pini; Maria Antonietta Maioli; Luigia Passamano; Filippo Brighina; Nicola Carboni; Matteo Garibaldi; Riccardo Zuccarino; Delio Gagliardi; Sabrina Siliquini; Stefano Previtali; Domenica Taruscio; Stefania Boccia; Maria Carmela Pera; Marika Pane; Eugenio Maria Mercuri

doi:10.1212/WNL.0000000000201654

Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey

Giorgia Coratti
, Martina Ricci
, Anna Capasso
, Adele D'amico
, Valeria Sansone
, Claudio Bruno
, Sonia Messina
, Federica Ricci
, Tiziana Mongini
, Michela Coccia
, Gabriele Siciliano
, Elena Pegoraro
, Mara Turri
, Massimiliano Filosto
, Giacomo Comi
, Riccardo Masson
, Lorenzo Maggi
, Irene Bruno
, Maria Grazia D'Angelo
, Antonio Trabacca

Veria Vacchiano, Maria Donati, Isabella Simone, Lucia Ruggiero, Antonio Varone, Lorenzo Verriello, Angela Berardinelli, Caterina Agosto, Antonella Pini, Maria Antonietta Maioli, Luigia Passamano, Filippo Brighina, Nicola Carboni, Matteo Garibaldi, Riccardo Zuccarino, Delio Gagliardi, Sabrina Siliquini, Stefano Previtali, Domenica Taruscio, Stefania Boccia, Maria Carmela Pera, Marika Pane, Eugenio Maria Mercuri^*

^*Autore corrispondente per questo lavoro

University of Milan
University of Genoa
University of Messina
Ospedali Riuniti
Azienda Ospedaliera - Universitaria Città della Salute e della Scienza di Torino
University Hospital of Pisa
Azienda Ospedaliera di Padova
University of Brescia
Regional Hospital of Bolzano
IRCCS Fondazione Ca'Granda – Ospedale Maggiore Policlinico - Milano
NeMO-Brescia Clinical Center for Neuromuscular Diseases
IRCCS Fondazione Istituto Neurologico Carlo Besta - Milano
IRCCS Ospedale Infantile Burlo Garofolo - Trieste
IRCCS Istituto Eugenio Medea - Bosisio Parini (LC)
IRCCS Istituto delle Scienze Neurologiche di Bologna
Azienda Ospedaliero Universitaria Meyer
Azienda Ospedaliero-Universitaria Consorziale Policlinico di Bari
University of Naples Federico II
Azienda Ospedaliera Santobono Pausillipon
S. Maria Della Misericordia Hospital
IRCCS Fondazione Istituto Neurologico Casimiro Mondino - Pavia
University of Padua
IRCCS Istituto DelleScienze Neurologiche di Bologna-UOC Neuropsichiatria Infantile
ATS Sardegna - ASSL Cagliari
University of Campania Luigi Vanvitelli
University of Palermo
Sant'Andrea Hospital
ATS Sardegna - ASSL Nuoro
IRCCS Ospedale pediatrico Bambino Gesù - Roma
Neuromuscular Omnicentre (NeMO) Trento-Fondazione Serena Onlus
Giovanni XXIII Pediatric Hospital

Risultato della ricerca: Contributo in rivista › Articolo

Abstract

ObjectiveSpinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in the SMN1 gene. The aim of this study was to assess the prevalence of SMA and treatment prescription in Italy.MethodsAn online survey was distributed to 36 centers identified by the Italian government as referral centers for SMA. Data on the number of patients with SMA subdivided according to age, type, SMN2 copy number, and treatment were collected.ResultsOne thousand two hundred fifty-five patients with SMA are currently followed in the Italian centers with an estimated prevalence of 2.12/100,000. Of the 1,255, 284 were type I, 470 type II, 467 type III, and 15 type IV with estimated prevalence of 0.48, 0.79, 0.79 and 0.02/100,000, respectively. Three patients with SMA 0 and 16 presymptomatic patients were also included. Approximately 85% were receiving one of the available treatments. The percentage of treated patients decreased with decreasing severity (SMA I: 95.77%, SMA II: 85.11%, SMA III: 79.01%).DiscussionThe results provide for the first time an estimate of the prevalence of SMA at the national level and the current distribution of patients treated with the available therapeutical options. These data provide a baseline to assess future changes in relation to the evolving therapeutical scenario.

Lingua originale	Inglese
pagine (da-a)	522-528
Numero di pagine	7
Rivista	Neurology
Volume	100
Numero di pubblicazione	11
DOI	https://doi.org/10.1212/WNL.0000000000201654
Stato di pubblicazione	Pubblicato - 2023

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SDG 3 Salute e benessere

All Science Journal Classification (ASJC) codes

Neurologia (clinica)

Keywords

Spinal Muscular Atrophy

Accesso al documento

10.1212/WNL.0000000000201654

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Coratti, G., Ricci, M., Capasso, A., D'amico, A., Sansone, V., Bruno, C., Messina, S., Ricci, F., Mongini, T., Coccia, M., Siciliano, G., Pegoraro, E., Turri, M., Filosto, M., Comi, G., Masson, R., Maggi, L., Bruno, I., D'Angelo, M. G., ... Mercuri, E. M. (2023). Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey. Neurology, 100(11), 522-528. https://doi.org/10.1212/WNL.0000000000201654

@article{e1ed5599ee94402497effb7a040036c5,

title = "Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey",

abstract = "ObjectiveSpinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in the SMN1 gene. The aim of this study was to assess the prevalence of SMA and treatment prescription in Italy.MethodsAn online survey was distributed to 36 centers identified by the Italian government as referral centers for SMA. Data on the number of patients with SMA subdivided according to age, type, SMN2 copy number, and treatment were collected.ResultsOne thousand two hundred fifty-five patients with SMA are currently followed in the Italian centers with an estimated prevalence of 2.12/100,000. Of the 1,255, 284 were type I, 470 type II, 467 type III, and 15 type IV with estimated prevalence of 0.48, 0.79, 0.79 and 0.02/100,000, respectively. Three patients with SMA 0 and 16 presymptomatic patients were also included. Approximately 85\% were receiving one of the available treatments. The percentage of treated patients decreased with decreasing severity (SMA I: 95.77\%, SMA II: 85.11\%, SMA III: 79.01\%).DiscussionThe results provide for the first time an estimate of the prevalence of SMA at the national level and the current distribution of patients treated with the available therapeutical options. These data provide a baseline to assess future changes in relation to the evolving therapeutical scenario.",

keywords = "Spinal Muscular Atrophy, Spinal Muscular Atrophy",

author = "Giorgia Coratti and Martina Ricci and Anna Capasso and Adele D'amico and Valeria Sansone and Claudio Bruno and Sonia Messina and Federica Ricci and Tiziana Mongini and Michela Coccia and Gabriele Siciliano and Elena Pegoraro and Mara Turri and Massimiliano Filosto and Giacomo Comi and Riccardo Masson and Lorenzo Maggi and Irene Bruno and D'Angelo, \{Maria Grazia\} and Antonio Trabacca and Veria Vacchiano and Maria Donati and Isabella Simone and Lucia Ruggiero and Antonio Varone and Lorenzo Verriello and Angela Berardinelli and Caterina Agosto and Antonella Pini and Maioli, \{Maria Antonietta\} and Luigia Passamano and Filippo Brighina and Nicola Carboni and Matteo Garibaldi and Riccardo Zuccarino and Delio Gagliardi and Sabrina Siliquini and Stefano Previtali and Domenica Taruscio and Stefania Boccia and Pera, \{Maria Carmela\} and Marika Pane and Mercuri, \{Eugenio Maria\}",

year = "2023",

doi = "10.1212/WNL.0000000000201654",

language = "English",

volume = "100",

pages = "522--528",

journal = "Neurology",

issn = "0028-3878",

publisher = "Lippincott Williams and Wilkins",

number = "11",

}

Coratti, G, Ricci, M, Capasso, A, D'amico, A, Sansone, V, Bruno, C, Messina, S, Ricci, F, Mongini, T, Coccia, M, Siciliano, G, Pegoraro, E, Turri, M, Filosto, M, Comi, G, Masson, R, Maggi, L, Bruno, I, D'Angelo, MG, Trabacca, A, Vacchiano, V, Donati, M, Simone, I, Ruggiero, L, Varone, A, Verriello, L, Berardinelli, A, Agosto, C, Pini, A, Maioli, MA, Passamano, L, Brighina, F, Carboni, N, Garibaldi, M, Zuccarino, R, Gagliardi, D, Siliquini, S, Previtali, S, Taruscio, D, Boccia, S, Pera, MC, Pane, M & Mercuri, EM 2023, 'Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey', Neurology, vol. 100, n. 11, pagg. 522-528. https://doi.org/10.1212/WNL.0000000000201654

TY - JOUR

T1 - Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey

AU - Coratti, Giorgia

AU - Ricci, Martina

AU - Capasso, Anna

AU - D'amico, Adele

AU - Sansone, Valeria

AU - Bruno, Claudio

AU - Messina, Sonia

AU - Ricci, Federica

AU - Mongini, Tiziana

AU - Coccia, Michela

AU - Siciliano, Gabriele

AU - Pegoraro, Elena

AU - Turri, Mara

AU - Filosto, Massimiliano

AU - Comi, Giacomo

AU - Masson, Riccardo

AU - Maggi, Lorenzo

AU - Bruno, Irene

AU - D'Angelo, Maria Grazia

AU - Trabacca, Antonio

AU - Vacchiano, Veria

AU - Donati, Maria

AU - Simone, Isabella

AU - Ruggiero, Lucia

AU - Varone, Antonio

AU - Verriello, Lorenzo

AU - Berardinelli, Angela

AU - Agosto, Caterina

AU - Pini, Antonella

AU - Maioli, Maria Antonietta

AU - Passamano, Luigia

AU - Brighina, Filippo

AU - Carboni, Nicola

AU - Garibaldi, Matteo

AU - Zuccarino, Riccardo

AU - Gagliardi, Delio

AU - Siliquini, Sabrina

AU - Previtali, Stefano

AU - Taruscio, Domenica

AU - Boccia, Stefania

AU - Pera, Maria Carmela

AU - Pane, Marika

AU - Mercuri, Eugenio Maria

PY - 2023

Y1 - 2023

N2 - ObjectiveSpinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in the SMN1 gene. The aim of this study was to assess the prevalence of SMA and treatment prescription in Italy.MethodsAn online survey was distributed to 36 centers identified by the Italian government as referral centers for SMA. Data on the number of patients with SMA subdivided according to age, type, SMN2 copy number, and treatment were collected.ResultsOne thousand two hundred fifty-five patients with SMA are currently followed in the Italian centers with an estimated prevalence of 2.12/100,000. Of the 1,255, 284 were type I, 470 type II, 467 type III, and 15 type IV with estimated prevalence of 0.48, 0.79, 0.79 and 0.02/100,000, respectively. Three patients with SMA 0 and 16 presymptomatic patients were also included. Approximately 85% were receiving one of the available treatments. The percentage of treated patients decreased with decreasing severity (SMA I: 95.77%, SMA II: 85.11%, SMA III: 79.01%).DiscussionThe results provide for the first time an estimate of the prevalence of SMA at the national level and the current distribution of patients treated with the available therapeutical options. These data provide a baseline to assess future changes in relation to the evolving therapeutical scenario.

AB - ObjectiveSpinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in the SMN1 gene. The aim of this study was to assess the prevalence of SMA and treatment prescription in Italy.MethodsAn online survey was distributed to 36 centers identified by the Italian government as referral centers for SMA. Data on the number of patients with SMA subdivided according to age, type, SMN2 copy number, and treatment were collected.ResultsOne thousand two hundred fifty-five patients with SMA are currently followed in the Italian centers with an estimated prevalence of 2.12/100,000. Of the 1,255, 284 were type I, 470 type II, 467 type III, and 15 type IV with estimated prevalence of 0.48, 0.79, 0.79 and 0.02/100,000, respectively. Three patients with SMA 0 and 16 presymptomatic patients were also included. Approximately 85% were receiving one of the available treatments. The percentage of treated patients decreased with decreasing severity (SMA I: 95.77%, SMA II: 85.11%, SMA III: 79.01%).DiscussionThe results provide for the first time an estimate of the prevalence of SMA at the national level and the current distribution of patients treated with the available therapeutical options. These data provide a baseline to assess future changes in relation to the evolving therapeutical scenario.

KW - Spinal Muscular Atrophy

UR - https://publicatt.unicatt.it/handle/10807/260339

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UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85150367194&origin=inward

U2 - 10.1212/WNL.0000000000201654

DO - 10.1212/WNL.0000000000201654

M3 - Article

SN - 0028-3878

VL - 100

SP - 522

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JO - Neurology

JF - Neurology

IS - 11

ER -

Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey

Abstract

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Keywords

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