2026-04-13T02:41:36Zhttps://recercat.cat/oai/request

oai:recercat.cat:11351/130452025-10-24T10:26:13Zcom_2072_378070com_2072_378040col_2072_378092

2025-10-24T10:26:13Z urn:hdl:11351/13045 Proposal of an Integrated Patient Journey roadmap for the introduction of the first gene therapy for haemophilia B in Spain – The BHEMOGEN project Bonanad, Santiago Herrera, Concha Rodriguez Lopez, Manuel García-Diego, Daniel-Aníbal García, S Álvarez Román, María Teresa Montoro-Ronsano, J. Bruno Teràpia genètica Sang - Coagulació - Trastorns - Tractament Atenció centrada en el pacient ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Biological Therapy::Genetic Therapy DISEASES::Hemic and Lymphatic Diseases::Hematologic Diseases::Blood Coagulation Disorders::Blood Coagulation Disorders, Inherited::Hemophilia B Other subheadings::Other subheadings::/therapy HEALTH CARE::Health Services Administration::Patient Care Management::Comprehensive Health Care::Primary Health Care::Patient-Centered Care TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::terapia biológica::terapia genética ENFERMEDADES::enfermedades hematológicas y linfáticas::enfermedades hematológicas::trastornos de la coagulación sanguínea::trastornos de la coagulación sanguínea hereditarios::hemofilia B Otros calificadores::Otros calificadores::/terapia ATENCIÓN DE SALUD::administración de los servicios de salud::gestión de la atención al paciente::atención integral de salud::atención primaria de la salud::atención centrada en el paciente Gene therapy; Haemophilia B; Patient journey roadmap Teràpia gènica; Hemofília B; Full de ruta del recorregut del pacient Terapia genética; Hemofilia B; Hoja de ruta del recorrido del paciente Background 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. Methods 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. Results 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. This study was sponsored by CSL Behring. 2025-10-24T10:26:13Z 2025-10-24T10:26:13Z 2025-05-07T07:25:57Z 2025-05-07T07:25:57Z 2025 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://hdl.handle.net/11351/13045 Rare;3 https://doi.org/10.1016/j.rare.2025.100078 Attribution-NonCommercial-NoDerivatives 4.0 International http://creativecommons.org/licenses/by-nc-nd/4.0/ info:eu-repo/semantics/openAccess Elsevier Scientia