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 - 2022
Y1 - 2022
N2 - Objective: Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in the SMN1 gene. The aim was to assess the prevalence of SMA and treatment prescription in Italy. Methods: An online survey was distributed to 36 centers identified by the Italian government as referral centers for SMA. Data on number of SMA patients subdivided according to age, type, SMN2 copy number and treatment were collected. Results: 1255 SMA patients are currently followed in the Italian centers with an estimated prevalence of 2.12/100000. Of the 1255, 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 0.02/100000 respectively. Three SMA 0 and 16 presymptomatic patients were also included.Around 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%). Discussion: The 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 - Objective: Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in the SMN1 gene. The aim was to assess the prevalence of SMA and treatment prescription in Italy. Methods: An online survey was distributed to 36 centers identified by the Italian government as referral centers for SMA. Data on number of SMA patients subdivided according to age, type, SMN2 copy number and treatment were collected. Results: 1255 SMA patients are currently followed in the Italian centers with an estimated prevalence of 2.12/100000. Of the 1255, 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 0.02/100000 respectively. Three SMA 0 and 16 presymptomatic patients were also included.Around 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%). Discussion: The 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 - epidemiology
KW - spinal muscular atrophy
KW - epidemiology
KW - spinal muscular atrophy
UR - http://hdl.handle.net/10807/223709
U2 - 10.1212/WNL.0000000000201654
DO - 10.1212/WNL.0000000000201654
M3 - Article
SN - 0028-3878
SP - N/A-N/A
JO - Neurology
JF - Neurology
ER -