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 - Bissoli, Claudio Bruno
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
KW - Spinal Muscular Atrophy
UR - http://hdl.handle.net/10807/260339
U2 - 10.1212/WNL.0000000000201654
DO - 10.1212/WNL.0000000000201654
M3 - Article
SN - 0028-3878
VL - 100
SP - 522
EP - 528
JO - Neurology
JF - Neurology
ER -