CO-61 | REAL-WORLD IMPLEMENTATION OF GENE THERAPY FOR HEMOPHILIA: A SHARED PATHWAY AMONG HEALTHCARE AUTHORITY, SPECIALIST CENTERS AND PATIENT ORGANIZATIONS IN THE EMILIA-ROMAGNA REGION

A. Coppola¹, L. Valdrè², C. Biasoli³, E. Ferri Grazzi⁴, E. Rozzi⁵, M. Volta⁵, R. Giroldini⁶, A. Tagliaferri¹ | ¹SSD Centro Hub Emofilia e Malattie Emorragiche Congenite, Azienda Ospedaliero-Universitaria di Parma, Italy; ²SSD Malattie Emorragiche Congenite, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy; ³SSI Presa in Carico delle Malattie Emorragiche e Tromboemboliche, AUSL Romagna, Ospedale Bufalini, Cesena, Italy; ⁴FEDRED, Federazione delle Associazioni Emofilici della Regione Emilia Romagna, Italy; ⁵Servizio Assistenza Ospedaliera, Malattie Rare, Direzione Generale Cura della Persona, Salute e Welfare, Regione Emilia Romagna, Italy; ⁶Area Governo del Farmaco e Dispositivi Medici, Direzione Generale Cura della Persona, Salute e Welfare, Regione Emilia Romagna, Italy

Introduction. Gene therapy (GT) was licensed in Italy for hemophilia A (HA) in early 2024 (then withdrawn from the market by the manufacturer in May 2026) and in September 2025 for hemophilia B (HB). Implementing such a complex and resource-demanding treatment into clinical practice requires highly multidisciplinary and coordinated expertise across different steps, including patient engagement, eligibility assessment, informed decision-making, dosing, and follow-up, aiming to enable patients to achieve maximum GT efficacy and safety. Within the National Health System, access to GT is regulated at the regional level. In the Emilia-Romagna region (RER), a hub-and-spoke (Parma, Bologna, and Cesena) network of specialist centers was established to organize, deliver, and monitor homogeneous comprehensive care for persons with congenital bleeding disorders.
Objectives and Methods. An ad hoc working group (WG), composed of the directors of the hemophilia centers and of representatives of the RER healthcare authority (rare disease and pharmaceutical governance areas) and patient organizations, was tasked with defining the pathway for implementing GT delivery and follow-up. A literature review, the analysis of center facilities, and potential candidate assessment were performed and discussed in virtual meetings every 1-2 months (May 2024-Mar 2025), followed by periodic updates.
Results. The WG identified providing unbiased, complete yet patient-friendly information and criteria for liver health assessment as priorities. A detailed information sheet covering GT's available efficacy and safety data, as well as the potential benefits and risks, was developed to guide the decision-making pathway, with the crucial contribution of the patient representative. By involving expert hepatologists from the three centers, clinical (anamnesis, physical examination), laboratory (hematochemical, virological, and immunological) and instrumental (liver ultrasound, elastography) data for assessing and monitoring liver health were clearly defined. Two official documents of the RER healthcare authority were issued. The WG also highlighted the need for dedicated psychologists addressing patient motivation, expectations, and resilience. After analyzing center facilities and expertise, patient selection, treatment, and follow-up were authorized at all three centers, aiming at preserving patients’ convenience and established relationships. Overall, nine HA candidates were identified; seven completed the eligibility steps, and five received GT. The same approach is currently ongoing for HB GT.
Conclusions. A tight collaboration among health authorities, clinicians, and patient organizations led to a formalized shared pathway for implementing GT in a regional network of hemophilia centers.