The condition can lead to repeated and sometimes life-threatening episodes of external and internal bleeding. The episodes can cause long-term damage, for example to the joints, and can be fatal if they occur in the brain. The deficient blood clotting results from the lack of functional human Factor IX, or hFIX, a blood clotting factor, as a result of mutations in the relevant gene.
Treatment of hemophilia B today consists of prophylactic or on-demand protein replacement therapy, in which frequent intravenous administrations of plasma-derived or recombinant hFIX are required to stop or prevent bleeding. Protein replacement therapy is expensive, often costing approximately $220,000 to $340,000 per patient per year in the United States. Such therapy is also burdensome and does not completely prevent bleeding.
uniQure’s hemophilia B gene therapy program aims to restore the function of blood clotting on a long-term and potentially curative basis through the delivery of the functional gene for hFIX into the patients’ liver cells. The data from our ongoing Phase I/II study demonstrate that our gene therapy, AMT-060, is delivering sustained and significantly improved clinical benefits to patients suffering from severe hemophilia B by enabling them to discontinue bi-weekly infusions of FIX replacement therapy and to essentially eliminate the risk of spontaneous bleeding.
In January 2017, AMT-060 received Breakthrough Therapy designation from the U.S. Food and Drug Administration in January 2017 based on results from this study (view press release). In April 2017, AMT-060 also received PRIME designation by the European Medicines Agency (EMA) on the strength of the same data.
In July 2017, the Company presented updated clinical data from our Phase I/II trial (view press release) demonstrating that our AAV5-based gene therapy has been safe, effective and durable.
Read more about AMT-060 here.
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