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Clotting factor replacement therapy has proven a highly effective means of treating haemophilia A and B. But treatment involves frequent and lifelong infusion of factor concentrates and is generally prophylactic rather than curative. It is also extremely expensive, associated with inhibitor formation and does not fully abolish the potential for spontaneous bleeding. Gene therapy offers a potential cure for haemophilia, with the possible continuous expression of a clotting factor gene following the administration of a viral vector carrying the appropriate gene. Recent clinical trials of gene therapy for haemophilia have proven positive in selected patients and new studies are underway.
The investigators behind the first gene therapy trial with adenoassociated virus 8 (AAV8) Factor IX appointed a patient ombudsperson to help ensure participants were able to give truly informed consent. The experiences and challenges of the ombudsperson, who met with the first six UK-based patients, are described. It was stressed to potential participants that altruism, rather than any expectation of clinical benefit, should be the primary motivation to taking part. At the same time a sober assessment of the potential risks to their safety needed to be made.
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