Gene therapy is a promising treatment for haemophilia B patients. Models of individual patient responses have been developed to allow clinicians to appropriate a personalised dosage and minimise side effects.
Haemophilia B, also known as the Christmas disease, named after Stephen Christmas the first patient diagnosed with this disease, is an inherited disease caused by a defect in the Factor IX Gene (F9). This defect manifests in insufficient production of the blood coagulation factor IX, resulting in excessive bleeding. The most common therapy involves prophylactic infusions of factor IX concentrate to improve the quality of life by minimising the episodes of bleeds. The main limitations of such a treatment plan are repeat infusions, product half-life, costs, and inhibitor formation.
The FIX concentration in healthy individuals is typically 90nM and based upon the experience of the clinicians increasing FIX activity to 1-5% of normal values has a significant positive impact on patients’ quality of life. Therefore, even a partial correction the FIX deficiency would result in improved clinical outcomes and increase the chances of patients living a near-normal life. Gene therapy has the potential to deliver this and the fact that haemophilia B is monogenic in nature further encourages the exploration of gene delivery for this disease.
