Un lavoro che propone indicazioni pratiche per la valutazione, il trattamento e il follow-up di pazienti con emofilia di tipo A grave, potenziali candidati per la terapia genica basata sull’impiego di virus adenoassociati. Secondo la ricerca l’uso del modello organizzativo hub-and-spoke e di team multidisciplinari dovrebbe ottimizzare il processo di selezione dei pazienti candidati alla terapia genica, nonché la gestione del dosaggio e del follow-up del paziente, il suo coinvolgimento, la sorveglianza da parte del laboratorio e le aspettative del paziente sui risultati. Un approccio questo che dovrebbe consentire di massimizzare i benefici della terapia genica basata sull’uso di un vettore virale adenoassociato nell’emofilia A.
Introduction: Current treatment for haemophilia A involves factor VIII replacement or non-replacement (emicizumab) therapies, neither of which permanently normalise factor VIII levels. Gene therapy using adeno-associated viral (AAV) vectors is an emerging long-term treatment strategy for people with severe haemophilia A (PwSHA) that is likely to be available for clinical use in the near future.
Aim: This article proposes practical guidelines for the assessment, treatment, and follow-up of potential PwSHA candidates for AAV-based gene therapy.
Method: Using the Delphi method, a working group of Italian stakeholders with expertise in and knowledge of the care of adults with haemophilia A analysed literature for AAV-based gene therapy and drafted a list of statements that were circulated to a panel of Italian peers. During two rounds of voting, panel members voted on their agreement with each statement to reach a consensus.
Results: The Delphi process yielded 40 statements regarding haemophilia A gene therapy, across five topics: (1) organisational model; (2) multidisciplinary team; (3) patient engagement; (4) laboratory surveillance; and (5) patient follow-up and gene therapy outcomes. The consensus was reached for all 40 statements, with the second round of voting needed for five statements.
Conclusion: Use of the hub-and-spoke organisational model and multidisciplinary teams are expected to optimise patient selection for gene therapy, as well as the management of dosing and patient follow-up, patient engagement, laboratory surveillance, and patient expectations regarding outcomes. This approach should allow the benefits of AAV-based gene therapy for haemophilia A to be maximised.
Laying the foundations for gene therapy in Italy for patients with haemophilia A: A Delphi consensus study. Haemophilia. 2022; 1– 10. https://doi.org/10.1111/hae.14709, , , et al.