Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2025 Aug;46(8):3839-3849.
doi: 10.1007/s10072-025-08125-7. Epub 2025 Mar 28.

Patients on treatment with risdiplam in Italy: challenges in the interpretation of the real-world data

Emilio Albamonte  1 , Adrea Lizio  2 , Giorgia Coratti  3   4 , Lorenzo Maggi  5 , Elena Pegoraro  6 , Marika Pane  7   3 , Sonia Messina  8 , Riccardo Masson  5 , Adele D'Amico  9 , Enrico Bertini  9 , Antonella Pini  10 , Federica Ricci  11 , Tiziana Mongini  12 , Claudio Bruno  13 , Katia Patanella  14 , Maria Sframeli  8 , Claudia Dosi  5 , Silvia Bonanno  5 , Gaia Scarpini  10 , Noemi Brolatti  13 , Alice Zanolini  2 , Chiara Bravetti  3 , Maria Carmela Pera  3 , Eugenio Maria Mercuri  15   16 , Valeria Ada Sansone  1 ; ItaSMAc
Collaborators, Affiliations

Patients on treatment with risdiplam in Italy: challenges in the interpretation of the real-world data

Emilio Albamonte et al. Neurol Sci. 2025 Aug.

Abstract

Aims: (i) provide a snapshot from a large cohort of Italian patients with SMA on risdiplam in the real-world setting; (ii) identify any differences in the cohorts before and after commercial drug approval considering the different eligibility access criteria (iii) describe preliminary data on adherence to treatment and reasons for shifting from nusinersen to risdiplam.

Methods: Charts from patients on risdiplam were retrospectively reviewed. Results were then compared between patients accessing the drug during an initial restricted compassionate use program (cohort 1) and those after commercial approval, with no restrictions (cohort 2). Side effects and adherence were recorded for both cohorts as well as data on shifters.

Results: 283 patients (median age: 22 years) were included. Only a minority were walkers. Respiratory and bulbar comorbidities were more severe in cohort 1 (58% non sitters) than in cohort 2 (52% sitters). 35% and 46% of patients from cohorts 1 and 2 shifted from nusinersen to risdiplam respectively. Adherence and safety profile were good in both cohorts.

Conclusions: This is the largest cohort described so far providing insights on the characteristics of patients on risdiplam in the real world. The disability level and age were very different from those that had driven efficacy results in the trials. This may at least in part produce some evidence to account for the variable results reported so far in the realworld. Importantly, the safety profile was confirmed even in these more severely disabled and older patients compared to those in the trials.

Keywords: Adherence; Compassionate use program; Risdiplam; Safety; Spinal Muscular Atrophy.

PubMed Disclaimer

Conflict of interest statement

Declarations. Dr Albamonte disclose personal fees from Biogen, Roche, Novartis, outside of the submitted work; Coratti G disclose personal fees from Biogen, Roche, Novartis, outside of the submitted work; Maggi L disclose personal fees from Biogen, Roche, Novartis, outside of the submitted work; Pegoraro E disclose personal fees from Biogen, Roche, Novartis, outside of the submitted work; Pane M disclose personal fees from Biogen, Roche, Novartis, outside of the submitted work; Messina S disclose personal fees from Biogen, Roche, Novartis, outside of the submitted work; Masson R disclose personal fees from Biogen, Roche, Novartis, outside of the submitted work; D’Amico A disclose personal fees from Biogen, Roche, Novartis, outside of the submitted work; Bertini E disclose personal fees from Biogen, Roche, Novartis, outside of the submitted work; Pini A disclose personal fees from Biogen, Roche, Novartis, outside of the submitted work; Ricci F disclose personal fees from Biogen, Roche, Novartis, outside of the submitted work; Mongini T disclose personal fees from Biogen, Roche, Novartis, outside of the submitted work; Bruno C disclose personal fees from Biogen, Roche, Novartis, outside of the submitted work; Patanella K disclose personal fees from Biogen, Roche, Novartis, outside of the submitted work; Sframeli M disclose personal fees from Biogen, Roche, Novartis, outside of the submitted work; Dosi C disclose personal fees from Biogen, Roche, Novartis, outside of the submitted work; Bonanno S disclose personal fees from Biogen, Roche, Novartis, outside of the submitted work; Scarpini G disclose personal fees from Biogen, Roche, Novartis, outside of the submitted work; Brolatti N disclose personal fees from Biogen, Roche, Novartis, outside of the submitted work; Zanolini A disclose personal fees from Biogen, Roche, Novartis, outside of the submitted work; Pera MC disclose personal fees from Biogen, Roche, Novartis, outside of the submitted work; Mercuri E disclose personal fees from Biogen, Roche, Novartis, Scholar Rock, Epirium, outside of the submitted work; Sansone VA disclose personal fees from Biogen, Roche, Novartis, outside of the submitted work. Dr Lizio has nothing to disclose. Bravetti C has nothing to disclose. Ethical statement: “We confirm that we have read the Journal’s position on issue involved in ethical publication and affirm that this report is consistent with those guidelines.” Consent to Participate: Informed consent was obtained from all individual participants included in the study. Consent to Publish: Consent to publish has been obtained from all participants. Conflict of Interest: The authors declare no conflict of interest.

References

    1. Mercuri E, Sumner CJ, Muntoni F, Darras BT, Finkel RS (2022) Spinal muscular atrophy. Nat Rev Dis Primers 8(1):52. https://doi.org/10.1038/s41572-022-00380-8 - DOI - PubMed
    1. Russman BS (2007) Spinal muscular atrophy: clinical classification and disease heterogeneity. J Child Neurol 22(8):946–951. https://doi.org/10.1177/0883073807305673 - DOI - PubMed
    1. Butchbach MER (2021) Genomic variability in the survival motor neuron genes (SMN1 and SMN2): implications for spinal muscular atrophy phenotype and therapeutics development. Int J Mol Sci 22(15):7896. https://doi.org/10.3390/ijms22157896 - DOI - PubMed - PMC
    1. Jędrzejowska M (2020) Advances in newborn screening and presymptomatic diagnosis of spinal muscular atrophy. Degener Neurol Neuromuscul Dis 15(10):39–47. https://doi.org/10.2147/DNND.S246907 - DOI
    1. Hoy SM (2021) Nusinersen: a review in 5q spinal muscular atrophy. CNS Drugs 35(12):1317–1328. https://doi.org/10.1007/s40263-021-00878-x . Epub 2021 Nov 30. Erratum in: CNS Drugs. 2022 Jan;36(1):99. PMID: 34850360; PMCID: PMC8709816.

LinkOut - more resources