Gene and emerging therapies in haemophilia

ASHLEY FLETCHER

Ashley Fletcher is the AHCDO Australian Bleeding Disorders Registry (ABDR) Research Fellow.

Highlights from Blood 2024

Exciting advancements in gene therapy and other innovative treatments for haemophilia were presented at the Blood 2024 conference in Brisbane, offering new hope for long-term treatment solutions.

TRANSFORMATIVE GENE THERAPY

Hemgenix (etranacogene dezaparvovec): a gene therapy for haemophilia B, offering a potential long-term solution by enabling the body to produce factor IX (9). Clinical trials have shown promising reductions in bleeding episodes and a significant decrease in reliance on standard factor replacement therapy.

OTHER EMERGING THERAPIES

Fitusiran: a small interfering RNA (siRNA) therapy that lowers antithrombin levels to enhance clot formation, showing potential as a once-monthly treatment for both haemophilia A and B.

Concizumab: a monoclonal antibody that targets the tissue factor pathway inhibitor (TFPI) to improve clotting, particularly for patients with inhibitors. Evaluation for access in Australia is anticipated soon.

Efanesoctocog alfa: An extended half-life factor VIII (8) therapy designed to provide more stable clotting protection with less frequent dosing.

BENEFITS AND CONSIDERATIONS

Gene therapy represents a major advancement in haemophilia care by potentially offering a one-time treatment that provides durable clotting factor production. However, eligibility criteria, long-term efficacy, and safety monitoring remain key considerations. Meanwhile, non-factor therapies continue to provide alternative solutions for patients who may not be candidates for gene therapy.

These therapies mark a significant step toward reducing the burden of lifelong treatment and improving quality of life for people with haemophilia. Always consult with your Haemophilia Treatment Centre team to understand how these advancements may fit into your treatment plan.

But, as one clinician commented: