TY  - JOUR
A1  - Miesbach, Wolfgang
A1  - O’Mahony, Brian
A1  - Key, Nigel S.
A1  - Makris, Mike
T1  - How to discuss gene therapy for haemophilia? A patient and physician perspective
T2  - Haemophilia
N2  - Gene therapy has the potential to revolutionise treatment for patients with haemophilia and is close to entering clinical practice. While factor concentrates have improved outcomes, individuals still face a lifetime of injections, pain, progressive joint damage, the potential for inhibitor development and impaired quality of life. Recently published studies in adeno‐associated viral (AAV) vector‐mediated gene therapy have demonstrated improvement in endogenous factor levels over sustained periods, significant reduction in annualised bleed rates, lower exogenous factor usage and thus far a positive safety profile. In making the shared decision to proceed with gene therapy for haemophilia, physicians should make it clear that research is ongoing and that there are remaining evidence gaps, such as long‐term safety profiles and duration of treatment effect. The eligibility criteria for gene therapy trials mean that key patient groups may be excluded, eg children/adolescents, those with liver or kidney dysfunction and those with a prior history of factor inhibitors or pre‐existing neutralising AAV antibodies. Gene therapy offers a life‐changing opportunity for patients to reduce their bleeding risk while also reducing or abrogating the need for exogenous factor administration. Given the expanding evidence base, both physicians and patients will need sources of clear and reliable information to be able to discuss and judge the risks and benefits of treatment.
KW  - adeno‐associated virus
KW  - factor IX
KW  - factor VIII
KW  - gene therapy
KW  - haemophilia
Y1  - 2019
UR  - http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/53000
UR  - https://nbn-resolving.org/urn:nbn:de:hebis:30:3-530008
VL  - 25
SP  - 545
EP  - 557
PB  - Wiley
ER  -