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. 2023 Mar 14;100(11):522-528.
doi: 10.1212/WNL.0000000000201654. Epub 2022 Dec 2.

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

Giorgia Coratti  1 , Martina Ricci  1 , Anna Capasso  1 , Adele D'amico  1 , Valeria Sansone  1 , Claudio Bruno  1 , Sonia Messina  1 , Federica Ricci  1 , Tiziana Mongini  1 , Michela Coccia  1 , Gabriele Siciliano  1 , Elena Pegoraro  1 , Mara Turri  1 , Massimiliano Filosto  1 , Giacomo Comi  1 , Riccardo Masson  1 , Lorenzo Maggi  1 , Irene Bruno  1 , Maria Grazia D'Angelo  1 , Antonio Trabacca  1 , Veria Vacchiano  1 , Maria Donati  1 , Isabella Simone  1 , Lucia Ruggiero  1 , Antonio Varone  1 , Lorenzo Verriello  1 , Angela Berardinelli  1 , Caterina Agosto  1 , Antonella Pini  1 , Maria Antonietta Maioli  1 , Luigia Passamano  1 , Filippo Brighina  1 , Nicola Carboni  1 , Matteo Garibaldi  1 , Riccardo Zuccarino  1 , Delio Gagliardi  1 , Sabrina Siliquini  1 , Stefano Previtali  1 , Domenica Taruscio  1 , Stefania Boccia  1 , Maria Carmela Pera  1 , Marika Pane  1 , Eugenio Mercuri  2 ; ITASMAC working group
Collaborators, Affiliations

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

Giorgia Coratti et al. Neurology. .

Abstract

Objective: Spinal 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.

Methods: An 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.

Results: One 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%).

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.

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Figures

Figure 1
Figure 1. Frequency of SMN2 Copy Numbers in Patients With SMA
Key to figure: (A) Frequency of SMN2 copy numbers according to SMA type and (B) frequency of SMA types according to SMN2 copy number. The patient with SMA III and SMN1copy = 1 + G287R was not included in the figure because of its role as positive modifier of the SMA phenotype.
Figure 2
Figure 2. Distribution of Patients With SMA I Among Available Treatments
Colour key: Blue = Switched from nusinersen to risdiplam/onasemnogene abeparvovec, Orange = Switched from risdiplam to nusinersen/onasemnogene abeparvovec, Green = Switched from onasemnogene abeparvovec to risdiplam/nusinersen, Gray = Remained on the same treatment, no switch was recorded.
See this image and copyright information in PMC

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