人类基因治疗的领导者——荷兰小型生物技术公司uniQure 3月17日公布了对已接受Glybera治疗的脂蛋白脂肪酶缺乏症（LPLD）患者回顾性收集资料的初步分析数据。该项分析涵括了13例患者治疗后长达6年的随访数据，这些患者均满足Glybera在欧盟的标签适应症要求。

Glybera是一种基因疗法，于2012年10月获欧盟批准，用于治疗一种极其罕见的遗传性、代谢性疾病——脂蛋白脂肪酶缺乏症（LPLD），目前，Glybera尚未获欧盟以外国家批准。

一个由独立专家组成的外部仲裁委员会对每例患者的档案进行了审查。该项分析，将患者接受Glybera治疗前6年和治疗后6年的时间段进行了对比，以评估既往有严重或反复胰腺炎病史的每例LPLD患者，分别在这2个时间段里遭受胰腺炎发作的次数和严重程度。审查结果表明，Glybera在新胰腺炎事件风险（包括重症胰腺炎事件的发生）方面提供了长期有益影响。这些结果与Glybera治疗后长达3年的复查结果所表现出的积极趋势相符。

LPLD是一种罕见病，发病率不超过百万分之一或二。LPLD患者无法处理血液中的脂肪颗粒，具有急性及潜在致命性胰腺炎症风险。在临床试验中，LPLD患者接受一次Glybera治疗后，就可以显著降低急性胰腺炎发病率。

关于

Glybera是一种基因疗法，利用一种腺相关病毒（AAV）将一个功能性LPL基因拷贝传递给骨骼肌，该药用于治疗一种极其罕见的遗传性、代谢性疾病——脂蛋白脂肪酶缺乏症（LPLD）。

Glybera于2012年10月获欧盟批准，是欧洲获批的首个基因治疗药物，是基因治疗领域的重大推动力，同时标志着基因治疗的一个里程碑。Glybera价格昂贵，每位患者的花费高达120万欧元（约合160万美元），因此也创造了昂贵现代医药的新纪录。相对于传统的蛋白替代策略，基因疗法能够提供更高的利益，因为基因治疗恢复了自然的身体机能，而不仅仅是短期修复。

Amsterdam, the Netherlands, and Parma, Italy, March 17, 2014 — uniQure N.V. (Nasdaq: QURE), a leader in human gene therapy, and Chiesi Farmaceutici S.p.A. (“Chiesi”), a leading international pharmaceutical company, today announced initial analysis of retrospectively collected inpidual patient data from LPLD patients treated with Glybera®.  The analysis covers follow-up data for up to six years post treatment for 13 patients, all of whom met indication requirements for the 

current labeling of Glybera in the EU. This analysis represents an extension of the case note review which formed a part of the data package upon which the European Commission approved Glybera in October 2012 under exceptional circumstances for the treatment of a subset of patients with lipoprotein lipase deficiency, or LPLD, a potentially life-threatening, orphan me-tabolic disease.  Glybera currently is not approved for use outside of the European unio.

An external adjudication board of independent experts performed the review of the inpidual patient profiles. In the analysis equal time periods of up to six years before and after Glybera treatment were compared to eva1uate the number and severity of attacks of pancreatitis in each LPLD patient with a history of severe or repeated pancreatitis. The review suggests that treatment with Glybera provides long-term beneficial effects with regard to the risk of encountering new pancreatitis events, including the occurrence of severe pancreatitis events. These results are in line with the trend exhibited in the first case note review performed up to 3 years after treatment with Glybera.

"Despite the small number of patients in the study, it is encouraging to note that this new single treatment paradigm continues to indicate long term and relevant clinical benefit in a patient population that has no other treatment option," said Daniel Gaudet, MD, Ph.D., Associate Professor of Medicine, Université de Montreal, who was the leading investigator during the majority of the clinical studies performed with Glybera.

John Kastelein, MD, Ph.D., Professor of Medicine and Chairman of the Department of Vascular Medicine at the Academic Medical Center of the University of Amsterdam, who was among the inventors of Glybera, highlighted how the trend of long term benefit combined with a very encouraging safety profile of Glybera differentiates the gene therapy approach: "I hope that this approach of treating patients with severe lipid disorders will lead to additional gene therapy initiatives in our field."

Glybera is indicated for the treatment of adult patients diagnosed with familial LPLD confirmed by genetic testing and suffering from severe or multiple pancreatitis attacks despite dietary fat restrictions. LPLD results in hyperchylomicronemia, or dramatic and potentially life-threatening increases in the level of large fat-carrying particles, called chylomicrons, in the blood after eating. In many cases, LPLD and the associated elevated levels of chylomicrons can cause acute and potentially life-threatening inflammation of the pancreas, known as pancreatitis, thus leading to frequent hospitalizations. Recurrent pancreatitis can lead to chronic abdominal pain, pancreatic insufficiency - which is an inability to properly digest food due to a lack of digestive enzymes made by the pancreas -, and diabetes.  There is no other approved treatment for LPLD.

ab0ut uniQure

uniQure is delivering on the promise of gene therapy through single treatments with potentially curative results. We have developed a modular platform to rapidly bring new disease-modifying therapies to patients with severe disorders. We are engaged in multiple partnerships and have obtained regulatory approval of our lead product, Glybera, in the European unio for a subset of patients with LPLD.

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