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 beneļ¬ts
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.