Haemophilia, state of the art and new therapeutic opportunities.

Abstract

Haemophilia A and B are rare bleeding disorders. Over the past decades, they have been transformed from debilitating diseases to manageable conditions. However, several challenges and unmet needs remain in the treatment of the haemophilia limiting the QoL of the patients. These challenges are now being addressed by EHL recombinant factors, rebalancing and substitution therapies. Gene therapy and genome editing show promise for a definite clinical cure. Herein, we provide an overview of new therapeutic opportunities for haemophilia and their advances and limitations. The database on human medicines from EMA was used and data from rare disease (orphan) designations and EPARs were retrieved for the analysis. Clinical Trial databases were used to query all active studies on haemophilia. Gene therapy medicinal products based on AAV and lentiviral vectors are in development and clinical trials have reported substantial success in ameliorating bleeding tendency in haemophilia patients.The prospect of gene editing for correction of the underlying mutation is on the horizon with considerable potential. We are entering an era of innovation and abundance in treatment options for those affected by bleeding disorders but issues still remain about the affordability and accessibility to patients, the long-term durability, safety and efficacy.

Gene therapy in haemophilia: literature review and regional perspectives for Turkey

“…1,4 The cornerstone of the treatment is the replacement therapy with intravenous injections of FVIII and FIX concentrates, either episodically to treat acute bleedings or prophylactically to prevent them. 5 Existing therapies for haemophilia have been summarized in Figure 1. Long-term prophylaxis has been shown to be very effective and is now accepted as the standard of care.…”