5. Conclusions
Treatments have evolved regarding the management of the haemophilias. From a therapeutic approach focused just on filtered exogenous factor replacement, thinking has evolved to improve the delivery and pharmacokinetic properties of these exogenous replacement factors. Currently gene replacement/splicing advanced therapeutic medicinal products have emerged and represent a potential cure for people with haemophilia A and B.
In recent studies, gene therapies have induced sustained levels of FVIII and FIX, prevented bleeding, and reduced or eliminated the use of factor replacement products. This approach could also alleviate the heavy burden of the need for frequent factor infusions, concerns about inhibitor development, and limited global access to factor products. However, while short-term risks appear to be low, it has been noted that long-term safety and efficacy are not yet established.
Although the clinical data supporting gene therapy for haemophilia have been rather positive, some caution is advised in extending the benefits of gene therapy to the general population of patients with haemophilia due to potential selection bias of the results from the clinical studies.
Careful consideration should be given to the advantages and disadvantages of the different type of vectors and their suitability for the different haemophilia patients depending on their age, availability or risk for inhibitors, and other factors.
All the above-mentioned factors play a role in the decision making for each individual patient with haemophilia. In addition to gene therapy, novel replacement therapies and other non-factor-based therapy options are being developed, with one such therapy being released in 2018. We are entering an era of innovation and abundance in treatment options for those affected by bleeding disorders. There are many questions that remain: what are the eligibility criteria to qualify for this therapy, will it be affordable and accessible to patients, what is the long-term durability and efficacy and is it safe? Although, the choice of therapy available in the future may in part be directed by financial implications, this may, with time, allow for more personalized care with improvement in quality of life for the next generation of patients with haemophilia.