Proposal of an Integrated Patient Journey roadmap for the introduction of the first gene therapy for haemophilia B in Spain – The BHEMOGEN project

• Published in: Rare (Amsterdam, Netherlands) Vol. 3; p. 100078
• Main Authors: Álvarez-Román, MT, Bonanad, S, Herrera, C, López, MR, García-Diego, DA, García, S, Montoro, JB, Quintero, JP, Poveda, JL, Gil, A, Gómez, I, Cortés, I
• Format: Journal Article
• Language: English
• Published: Elsevier B.V 2025
• Subjects: Gene therapy; haemophilia B; patient journey roadmap; SETH; AAV5; RFVE; GMOs; SEDISA; ANEH; haemophilia B; FIX; SEHH; FEDHEMO; SECA; NHS; WFH; Gene therapy; LPRL; patient journey roadmap
• ISSN: 2950-0087; 2950-0087
• DOI: 10.1016/j.rare.2025.100078

The approval of the first gene therapy for haemophilia B represents a disruptive innovation in its management. Its practical integration into the Spanish national healthcare system presents unique challenges and opportunities, requiring the development of a structured, coordinated and multidisciplinary patient journey roadmap to ensure high-quality patient care and outcomes measurement. A multidisciplinary panel of 10 experts was established. The project involved a literature review, structured questionnaires, individual interviews, practical exercises and validation of results by focus group with nominal group methodology. No specific patient journey for haemophilia B or for gene therapy were identified in Spain. Associated changes required for current treatment of haemophilia B were identified and proposals made: 1) selection of candidates to receive gene therapy involves individualised assessment of eligibility criteria by a multidisciplinary committee including additional profiles; 2) providing adequate training on gene therapy to healthcare professionals is a must to ensure quality of care; 3) the generation of a specific informed consent document and processes involving hepatology and psychology are essential, with the patient association playing a crucial role; 4) centres without prior practical experience in gene therapy must adapt specific areas to ensure correct preparation and administration; 5) short- and long-term patient follow-up should incorporate continuous monitoring of the patient's liver health and inclusion in registries for evaluation of outcomes.