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Semin Thromb Hemost 2025; 51(01): 049-057
DOI: 10.1055/s-0044-1787664
Review Article

Patient Perspective on Disease Burden and Gene Therapy for Hemophilia A and B: The “Haemvolution for Patients” Italian Survey

Maria Francesca Mansueto
1   Centro Emofila e Divisione di Ematologia, Azienda Ospedaliera Universitaria Policlinico Paolo Giaccone, Palermo, Italy
,
Sarah Bigi
2   Dipartimento di Scienze Linguistiche e Letterature Straniere, Università Cattolica del Sacro Cuore, Milan, Italy
,
Marco Follino
3   Fondazione Paracelso Onlus, Milan, Italy
,
Angelo Lupi
4   Federation of Haemophilia Associations (FedEmo), Rome, Italy
,
Antonio Coppola
5   Regional Reference Centre for Inherited Bleeding Disorders, Department of General and Specialist Medicine, University Hospital of Parma, Parma, Italy
› Author Affiliations Funding The authors are members of the board of the Haemvolution for Patients project sponsored by BioMarin. The funder had no role in the design, the conduct of the study, or the analysis of the results.
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Abstract

Hemophilia is a rare X-linked congenital bleeding disorder due to a deficiency of factor VIII (hemophilia A [HA]) or factor IX (hemophilia B [HB]). Replacement and nonreplacement treatments are available but have limitations. Gene therapy (GT) provides an effective, long-term, single-dose treatment option, now approaching clinical practice. This study aimed to understand patient perspectives on GT for HA and HB in Italy using a qualitative questionnaire distributed through Italian patient associations, addressing patient views on daily life, treatments, unmet needs, quality of life (QoL), and GT for hemophilia. In total, 141 participants had HA, and 14 had HB (severe 78.6%). Daily life was most affected by pain and/or joint function limitations (57.5% of participants), high infusion frequency (42.5%), management of breakthrough bleeding episodes (40.3%), and anxiety/fear of severe or sudden bleeding (38.8%). Despite current treatments, about half of the participants experienced three or more annual bleeding episodes. Most participants knew of GT (87.2%) and expected improvements in QoL (60.5%), reduced frequency of current treatments (53.5%), and a permanent cure (49.1%); 46.4% were unaware of its once-off dosage and 46.4% were not concerned about the costs they anticipated to be associated with GT. Although several fears were reported, 25.0% of participants were willing to undergo GT with the support of a multidisciplinary team. This survey provided valuable insight into patient perspectives on hemophilia and GT in Italy. Overall, relevant proportions of patients still experience limitations affecting their daily life. Most were positive about GT and anticipated improvements in their clinical outcomes and QoL.

Keywords

disease burden - gene therapy - hemophilia - patient awareness - patient perspective

Authors' Contributions

All the authors developed the survey, performed the statistical analysis, critically analyzed the data, and revised and approved each draft and the final manuscript for publication.


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Publication History

Article published online:
18 June 2024

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