更新于：2024-05-01

Sitosterolemia

谷甾醇血症

更新于：2024-05-01

基本信息

别名

PHYTOSTEROLEMIA、Phytosterolaemia、Phytosterolemia

+ [21]

简介

An extremely rare autosomal recessive inherited disorder caused by mutations in the ABCG5 or ABCG8 genes. It is characterized by a defective sterolin transporter that impairs the elimination of plant sterols and, to a lesser degree, cholesterol from the body. These fatty substances build up in the tissues including arteries and skin, resulting in atherosclerosis and xanthomas.

关联

项与谷甾醇血症相关的药物

Ezetimibe

依折麦布

靶点

NPC1L1

作用机制

NPC1L1抑制剂 [+1]

在研机构

Organon & Co. [+4]

原研机构

Merck Sharp & Dohme Corp.

在研适应症

高脂血症 [+5]

非在研适应症

动脉粥样硬化 [+7]

最高研发阶段批准上市

首次获批国家/地区

德国

首次获批日期2002-10-17

项与谷甾醇血症相关的临床试验

CTR20240677 / RecruitingN/A

空腹：北京亚宝生物药业有限公司研制的依折麦布片与MSD PHARMA(Singapore) Pte. Ltd.持证的Ezetrol/益适纯®在健康受试者中进行的单中心、随机、开放、两制剂、空腹、单次给药、两周期、双交叉生物等效性研究餐后：北京亚宝生物药业有限公司研制的依折麦布片与MSD PHARMA(Singapore) Pte. Ltd.持证的Ezetrol/益适纯®在健康受试者中进行的单中心、随机、开放、两制剂、餐后、单次给药、三序列、三周期、部分重复交叉生物等效性研究

以北京亚宝生物药业有限公司生产的依折麦布片（规格：10mg）为受试制剂，以MSD PHARMA(Singapore) Pte. Ltd.上市的依折麦布片（Ezetrol/益适纯®，规格：10mg）为参比制剂，考察两制剂在空腹及餐后状态下单次给药的药代动力学参数及相对生物利用度，评价两制剂是否具有生物等效性。同时评价两种制剂在健康人体中的安全性和耐受性。

开始日期2024-02-29

申办/合作机构

北京亚宝生物药业有限公司

CTR20232298 / Active, not recruitingN/A

依折麦布片在空腹条件下的人体生物等效性试验

主要目标：为了证明受试制剂（T）：安若维他药业泰州有限公司生产的依折麦布片10mg，与参比制剂（R）：默沙东（中国）投资有限公司的Ezetrol片10mg之间，在空腹条件下作用于48名健康、成年、男性和女性、人体受试者的生物等效性。次要目标：监测受试者口服单剂量研究产品（IPs）的安全性和有效性。应报告不良事件以及与实验室检查、体格检查和生命体征的临床显著差异，以评估安全性。

开始日期2023-10-15

申办/合作机构

安若维他药业泰州有限公司初创企业

CTR20232297 / Active, not recruitingN/A

依折麦布片在餐后条件下的人体生物等效性试验

主要目标：为了证明受试制剂（T）：安若维他药业泰州有限公司生产的依折麦布片10mg，与参比制剂（R）：默沙东（中国）投资有限公司的Ezetrol片10mg之间，在餐后条件下作用于48名健康、成年、男性和女性、人体受试者的生物等效性。次要目标：监测受试者口服单剂量研究产品（IPs）的安全性和有效性。应报告不良事件以及与实验室检查、体格检查和生命体征的临床显著差异，以评估安全性。

开始日期2023-10-13

申办/合作机构

安若维他药业泰州有限公司初创企业

100 项与谷甾醇血症相关的临床结果

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100 项与谷甾醇血症相关的转化医学

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0 项与谷甾醇血症相关的专利（医药）

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430

项与谷甾醇血症相关的文献（医药）

2024-01-01·Advances in experimental medicine and biology

Association of ABCG5 and ABCG8 Transporters with Sitosterolemia.

Review

作者: Sergio Paulo Bydlowski ; Debora Levy

Sitosterolemia is a rare genetic lipid disorder, mainly characterized by the accumulation of dietary xenosterols in plasma and tissues. It is caused by inactivating mutations in either ABCG5 or ABCG8 subunits, a subfamily-G ATP-binding cassette (ABCG) transporters. ABCG5/G8 encodes a pair of ABC half transporters that form a heterodimer (G5G8). This heterodimeric ATP-binding cassette (ABC) sterol transporter, ABCG5/G8, is responsible for the hepatobiliary and transintestinal secretion of cholesterol and dietary plant sterols to the surface of hepatocytes and enterocytes, promoting the secretion of cholesterol and xenosterols into the bile and the intestinal lumen. In this way, ABCG5/G8 function in the reverse cholesterol transport pathway and mediate the efflux of cholesterol and xenosterols to high-density lipoprotein and bile salt micelles, respectively. Here, we review the biological characteristics and function of ABCG5/G8, and how the mutations of ABCG5/G8 can cause sitosterolemia, a loss-of-function disorder characterized by plant sterol accumulation and premature atherosclerosis, among other features.

2024-01-01·Journal of lipid and atherosclerosis

Putative Pathogenic Variants of ABCG5 and ABCG8 of Sitosterolemia in Patients With Hyper-Low-Density Lipoprotein Cholesterolemia.

Article

作者: Nobuko Kojima ; Hayato Tada ; Akihiro Nomura ; Soichiro Usui ; Kenji Sakata ; Kenshi Hayashi ; Atsushi Nohara ; Akihiro Inazu ; Masa-Aki Kawashiri ; Masayuki Takamura

Objective:

Sitosterolemia is a rare autosomal recessive disease caused by the deleterious variants of adenosine 5'-triphosphate (ATP)-binding cassette sub-family G member 5 (ABCG5) or ATP-binding cassette sub-family G member 8 (ABCG8). There are only few data on the pathogenicity of ABCG5 and ABCG8. This study aimed to propose a scheme for determining variant pathogenicity and to catalog the putative pathogenic variants in sitosterolemia.

Methods:

This study enrolled 377 consecutive Japanese patients with hyper-low-density lipoprotein cholesterolemia (mean age: 46.5±19.8 years, with 192 men) who have targeted-sequenced data on ABCG5 or ABCG8 (among 21 Mendelian lipid genes for any dyslipidemias) and serum sitosterol levels at Kanazawa University Hospital from 2016 to 2021. Serum sitosterol levels were divided by 0.79 in patients treated with ezetimibe, accounting for the average reduction with this drug. ABCG5 or ABCG8 variants were defined as putative pathogenic if associated with serum sitosterol levels ≥5 µg/mL or homozygous if associated with serum sitosterol levels ≥10 µg/mL.

Results:

Twenty-three ABCG5 or ABCG8 variants (16 missense, 2 nonsense, 2 frameshift, 2 deletion, and 1 splice mutation) were identified. Based on our definition, 11 putative pathogenic variants (median sitosterol level: 10.1 [6.5-17.1] µg/mL) were found in 36 individuals and 12 benign variants (median sitosterol: 3.5 [2.5-4.1] µg/mL) in 14 individuals.

Conclusion:

The scheme proposed for assessing the pathogenicity of genetic variations (ABCG5 and ABCG8) is useful. Using this scheme, 11 putative pathogenic, and 12 benign variants in ABCG5 or ABCG were classified.

2023-11-01·EJHaem

Connecting the dots: Xanthoma, haemolytic anaemia, stomatocytosis and macrothrombocytopenia point to phytosterolaemia.

Article

作者: Jean-Baptiste Rieu ; Thibaut Jamme ; Léonardo Astudillo ; Lamisse Mansour-Hendili ; Thierry Levade ; Pierre Cougoul

项与谷甾醇血症相关的新闻（医药）

2023-02-24

·米内网

【关注】南京药企入局15亿降脂药，默沙东再迎劲敌

精彩内容日前，国家药监局官网显示，南京海鲸药业的依折麦布片以仿制4类报产获批，视同过评。米内网数据显示，2021年三大终端6大市场依折麦布片合计销售规模超过15亿元，同比增长61.74%。来源：米内网新版数据库依折麦布片用于治疗原发性高胆固醇血症、纯合子家族性高胆固醇血症、纯合子谷甾醇血症（或植物甾醇血症）。近年三大终端6大市场依折麦布片销售情况（单位：万元）来源：米内网格局数据库依折麦布片最早由先灵葆雅研发，后被默沙东收购。米内网数据显示，2021年三大终端6大市场（统计范围见文末）依折麦布片合计销售规模超过15亿元，同比增长61.74%。依折麦布片有7家企业拥有生产批文，2020年9月，湖南方盛制药拿下首仿，随后北京福元医药、重庆圣华曦药业等陆续获批。此外，常州制药厂、山东丹红制药|山东步长制药、浙江诺得药业等5家企业以新分类报产在审。南京海鲸药业今年以来获批产品情况来源：米内网新版数据库今年1月，南京海鲸药业的普拉洛芬滴眼液以仿制4类报产获批，视同过评。据了解，南京海鲸药业的前身为国内早期的三大鱼肝油厂之一——南京鱼肝油厂，是集药品研发、生产、销售为一体的科技创新企业，主要生产维生素和儿科口服液体制剂。资料来源：国家药监局官网、米内网数据库注：米内网《中国三大终端6大市场药品竞争格局》，统计范围是：城市公立医院和县级公立医院、城市社区中心和乡镇卫生院、城市实体药店和网上药店，不含民营医院、私人诊所、村卫生室，不含县乡村药店；上述销售额以产品在终端的平均零售价计算。如有疏漏，欢迎指正！本文为原创稿件，转载请注明来源和作者，否则将追究侵权责任。投稿及报料请发邮件到872470254@qq.com稿件要求详询米内微信首页菜单栏商务及内容合作可联系QQ：412539092【分享、点赞、在看】点一点不失联哦

并购

2022-08-17

·PRNewswire

Boston Heart Diagnostics Launches LipidSeq™-- An NGS Test for Common Genetic Disorders of Lipid Metabolism

FRAMINGHAM, Mass. , Aug. 17, 2022 /PRNewswire/ -- Boston Heart Diagnostics, part of the Eurofins network of companies, announces the launch of LipidSeq™, a revolutionary genetic test for cardiovascular disease. This saliva-based NGS test identifies the most common genetic causes of lipid and lipoprotein disorders. These disorders are associated with premature cardiovascular, pancreatic, kidney, and neurological diseases. Continue Reading When patients have very high levels of low-density lipoprotein cholesterol, triglycerides, or plasma sterols and/or very low levels of high-density lipoprotein cholesterol, there is a likelihood of a genetic mutation. Conditions detected by this 23-gene test include familial forms of hypercholesterolemia, lysosomal acid lipase deficiency, sitosterolemia, cerebrotendinous xanthomatosis, dysbetalipoproteinemia, hypertriglyceridemia, and HDL deficiency states including ApoA-I deficiency, Tangier disease, and LCAT deficiency, as well as other disorders. If there is a genetic basis for the patient's condition, understanding the specific mutation and associated disease can help guide treatment considerations, educate the patient about health risks, and encourage relatives to seek testing to determine if they, too, may be at risk. Boston Heart is the only commercial laboratory able to test biochemical and genetic contributors when diagnosing inherited disorders of lipid metabolism (Reference: Schaefer EJ, Geller AS, Endress G. The biochemical and genetic diagnosis of lipid disorders. Current Opinion in Lipidology 2019; 30:56-62.) Boston Heart Diagnostics announces the launch of LipidSeq™, a revolutionary genetic test for cardiovascular disease. Tweet this Testing of appropriate patients can be done at any age, which favors early identification and treatment of genetically influenced lipid and lipoprotein disorders. Early diagnosis and precision treatment can save lives, and have a significant clinical impact for practitioners, patients, and their families. LipidSeq was developed in collaboration with Eurofins laboratory partner Clinical Enterprise, which performs the genetic sequencing, and in consultation with Dr. Robert A. Hegele of Robarts Research Institute in London, Ontario. Healthcare providers may access this testing for their patients by signing up for an account with Boston Heart. The Boston Heart Customer Care department is available at 877.425.1252 or [email protected]. About Boston Heart Diagnostics Corporation Boston Heart Diagnostics, a subsidiary of Eurofins Scientific (EUFI.PA), is transforming the treatment of cardiovascular disease and related conditions by providing healthcare providers and their patients with novel, personalized diagnostics and integrated customized lifestyle programs that have the power to change the way clinicians and patients communicate about disease and improve health. For more information on Boston Heart Diagnostics, please visit SOURCE Boston Heart Diagnostics