Steinhagen-Thiessen Elisabeth, Stroes Erik, Soran Handrean, Johnson Colin, Moulin Philippe, Iotti Giorgio, Zibellini Marco, Ossenkoppele Bas, Dippel Michaela, Averna Maurizio R
Lipid Clinic, Charité, University of Berlin, Germany.
Department of Vascular Medicine, Amsterdam Medical Center, The Netherlands.
Atherosclerosis. 2017 Jul;262:146-153. doi: 10.1016/j.atherosclerosis.2016.08.023. Epub 2016 Aug 21.
A good understanding of the natural history of rare genetic lipid disorders is a pre-requisite for successful patient management. Disease registries have been helpful in this regard. Lipoprotein Lipase Deficiency (LPLD) is a rare, autosomal-recessive lipid disorder characterized by severe hypertriglyceridemia and a very high risk for recurrent acute pancreatitis, however, only limited data are available on its natural course. Alipogene tiparvovec (Glybera) is the first gene therapy to receive Marketing Authorization in the European Union; GENIALL (GENetherapy In the MAnagement of Lipoprotein Lipase Deficiency), a 15-year registry focusing on LPLD was launched in 2014 as part of its Risk Management Plan. The aim of this publication is to introduce the GENIALL Registry within a structured literature review of registries in rare genetic lipid disorders. A total of 11 relevant initiatives/registries were identified (homozygous Familial Hypercholesterolemia (hoFH) [n = 5]; LPLD [n = 1]; Lysosomal Acid Lipase Deficiency [LALD, n = 1], detection of mutations in genetic lipid disorders [n = 4]). Besides one product registry in hoFH and the LALD registry, all other initiatives are local or country-specific. GENIALL is the first global prospective registry in LPLD that will collect physician and patient generated data on the natural course of LPLD, as well as long-term outcomes of gene therapy.
There is a limited number of international initiatives focusing on the natural course of specific rare genetic lipid disorders. The GENIALL LPLD Registry could be the first step towards a future broader global initiative that collects data related to familial chylomicronemia syndrome and their underlying genetic causes.
充分了解罕见遗传性脂质疾病的自然史是成功管理患者的先决条件。疾病登记在这方面很有帮助。脂蛋白脂肪酶缺乏症（LPLD）是一种罕见的常染色体隐性脂质疾病，其特征为严重的高甘油三酯血症以及复发性急性胰腺炎的极高风险，然而，关于其自然病程的数据有限。阿利泼金替帕罗韦（商品名：Glybera）是首个在欧盟获得上市许可的基因疗法；GENIALL（脂蛋白脂肪酶缺乏症管理中的基因疗法）作为风险管理计划的一部分，是一项针对LPLD的为期15年的登记研究，于2014年启动。本出版物的目的是在对罕见遗传性脂质疾病登记研究的结构化文献综述中介绍GENIALL登记研究。共确定了11项相关倡议/登记研究（纯合子家族性高胆固醇血症[hoFH，n = 5]；LPLD[n = 1]；溶酶体酸性脂肪酶缺乏症[LALD，n = 1]，遗传性脂质疾病中的突变检测[n = 4]）。除了一项hoFH产品登记研究和LALD登记研究外，所有其他倡议都是局部或特定国家的。GENIALL是首个关于LPLD的全球前瞻性登记研究，它将收集医生和患者提供的关于LPLD自然病程以及基因疗法长期结果的数据。
关注特定罕见遗传性脂质疾病自然病程的国际倡议数量有限。GENIALL LPLD登记研究可能是迈向未来更广泛全球倡议的第一步，该倡议将收集与家族性乳糜微粒血症综合征及其潜在遗传病因相关的数据。
