Haemophilia and Access to Gene Therapy

Authors: Mahlangu, J

Affiliations: Department of Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

Publication: EBioMedicine; 2025; 115. 105712

ABSTRACT: Mutations in the clotting factor genes (Factor 8 or 9 genes) lead to impaired thrombin generation, resulting in haemophilia, characterized by hemarthroses. Over the past two decades, the evolving landscape of haemophilia therapies has been remarkable, with replacement treatments, non-factor therapies, and, more recently, gene therapy products enriching the therapeutic options available for managing haemophilia. The FDA and EMEA have approved several haemophilia adeno-associated virus (AAV)-delivered gene therapies, which provide various advantages such as a functional cure, enhanced quality of life, and a reduced treatment burden. However, real-world experience with haemophilia gene therapy (HGT) products is limited, and access in resource constrained health settings encounters several barriers, including product-related and health-system constraint factors.