更新于：2024-11-01

Sitosterolemia

谷甾醇血症

更新于：2024-11-01

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

Merck Sharp & Dohme LLC [+3]

原研机构

Merck Sharp & Dohme Corp.

在研适应症

纯合子家族性高胆固醇血症 [+3]

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

美国

首次获批日期2002-10-25

项与谷甾醇血症相关的临床试验

CTR20243141 / Active, not recruitingN/A

依折麦布片人体生物等效性试验

主要目的：在健康男性与女性受试者中于空腹/餐后条件下，评价受试制剂依折麦布片（规格：10 mg，生产商：南京海鲸药业股份有限公司）和MSD Pharma（Singapore）Pte. Ltd.为持证商的参比制剂依折麦布片（益适纯®，规格：10 mg）的生物等效性。次要目的：观察受试制剂依折麦布片与参比制剂依折麦布片（益适纯®）在健康受试者中的安全性。

开始日期2024-08-05

申办/合作机构

南京海鲸药业股份有限公司

CTR20241438 / CompletedN/A

依折麦布片人体生物等效性研究

本试验旨在研究健康受试者单次空腹和餐后口服由华润赛科药业有限责任公司研制、生产的依折麦布片（10 mg）的药代动力学特征；以MSD International GmbH（Singapore Branch）生产的依折麦布片（益适纯®，10 mg）为参比制剂，比较两制剂中药动学参数Cmax、AUC0-t、AUC0-∞，评价两制剂的人体生物等效性，并观察两制剂在健康受试者中的安全性。

开始日期2024-05-08

申办/合作机构

华润赛科药业有限责任公司

CTR20240830 / CompletedN/A

依折麦布片（10mg）在中国健康受试者中空腹和餐后给药条件下随机、开放、单剂量、两序列、四周期、完全重复交叉生物等效性试验

主要研究目的：按有关生物等效性试验的规定，选择MSD PHARMA (Singapore) Pte. Ltd.为持证商的依折麦布片（商品名：Ezetrol（益适纯），规格：10mg）为参比制剂，对江苏复旦复华药业有限公司生产，翎耀生物科技（上海）有限公司提供的受试制剂依折麦布片（规格：10mg）进行空腹和餐后给药人体生物等效性试验，比较受试制剂中药物的吸收速度和吸收程度与参比制剂的差异是否在可接受的范围内，评价两种制剂在空腹和餐后给药条件下的生物等效性。次要研究目的：观察健康志愿受试者口服受试制剂依折麦布片（规格：10mg）和参比制剂依折麦布片（商品名：Ezetrol（益适纯），规格：10mg）的安全性。

开始日期2024-04-08

申办/合作机构

翎耀生物科技（上海）有限公司

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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479

项与谷甾醇血症相关的文献（医药）

2024-09-01·Journal of Clinical Lipidology

Evaluation of plasma phytosterols in sitosterolemia, their kindreds and hyperlipidemia subjects

Article

作者: Zhang, Yiqing ; Wu, Junfang ; Zhang, Yuxuan ; Wang, Luya ; Zhang, Jun ; Yu, Hao ; Chen, Yan ; Ren, Xuanru ; Zheng, Zhaohai ; Zeng, Hesong ; Li, Jialu

BACKGROUNDPatients suffering from sitosterolemia with ABCG5/8 mutation typically present with early-onset or rapidly progressive atherosclerosis. Their kindreds with partial genetic deficiencies of ABCG5/8 are often considered healthy. However, discerning sitosterolemia from its familial kindreds and hyperlipidemia subjects has remained challenging.METHODSHere we retrospectively recruited seven families including 8 individuals diagnosed with sitosterolemia subjects, and 14 kindreds carrying single gene mutations. Additionally, 17 individuals with hyperlipidemia and 130 healthy controls served as positive and negative controls, respectively. A total of 6 phytosterols combined with cholesterol absorption indices (including sitosterol, campesterol, stigmasterol, and cholestanol) and cholesterol synthesis markers (desmosterol and 7-dehydrocholesterol), was compared across the aforementioned four groups.RESULTSAs expected, the sitosterolemia subjects with double mutations demonstrated significantly elevated levels of sitosterol and other cholesterol absorption indices. Meanwhile, sitosterolemia kindreds with single gene mutation showed a similar pattern of activated cholesterol-absorption ability to the hyperlipidemia group, but not as high as the double mutation group. Notably, the cholesterol-synthesis enzyme 7-dehydrocholesterol reductase displayed an increase in the hyperlipidemia group but a decrease in the sitosterolemia kindred group, suggesting a potential discriminative role of 7-dehydrocholesterol in distinguishing between these two groups. The combination of phytosterols was more valuable than clinical lipid index for sitosterolemia diagnosis.CONCLUSIONOur study revealed mild disruptions of cholesterol absorption capacities in sitosterolemia kindreds with single mutations. Furthermore, the combination of 6 phytosterols proved effective in distinguishing between sitosterolemia, its single mutation carriers, and hyperlipidemia patients.

2024-08-01·Clinica Chimica Acta

Dried blood spot-based free sterol signatures in sitosterolemia diagnostics

Article

作者: Choi, Man Ho ; Park, Mi Jung ; Moon, Ju-Yeon ; Lee, Ayoung ; Garg, Abhimanyu ; Son, Hyun-Hwa ; Yoo, Eun-Gyong ; Jung, Mo Kyung ; Kwon, Go Eun ; Rhie, Seonkyeong

BACKGROUNDSitosterolemia is a rare inherited lipid metabolic disorder characterized by increased levels of plant sterols and accelerated atherosclerosis. Although early detection is beneficial for the prevention of disease progression, it is largely underdiagnosed by routine screening based on conventional lipid profiles.MATERIALS AND METHODSA gas chromatography-mass spectrometry (GC-MS)-based profiling has been developed and validated to measure the levels of biologically active free sterols, including five endogenous sterols and three plant sterols (sitosterol, campesterol, and stigmasterol) in dried blood spot (DBS).RESULTSWithin- and between-run precisions were 1.4-11.1 % and 2.2-14.1 %, respectively, while the accuracies were all 86.3 ∼ 121.9 % with the correlation coefficients (r²) > 0.988 for all the sterols. In the patients (four girls and two boys, 6.5 ± 2.8 years), sitosterol levels were significantly increased, with an optimal cut-off value of 2.5 µg/mL distinguishing them from ninety-three age-matched healthy children. A cut-off value of 31.9 µg/mL differentiated the patients from six ABCG5/ABCG8 heterozygous carriers. In addition, the molecular ratios of sitosterol to cholesterol, desmosterol, and 7-dehydrocholesterol provided excellent cut-off values of 26.3, 67.6, and 21.6, respectively, to distinguish patients from both healthy controls and heterozygous carriers.CONCLUSIONSThe novel DBS-based GC-MS profiling of free sterols accurately identified patients with sitosterolemia, with a performance comparable to that of a serum assay. The DBS profiling could be more feasible method in clinical practice as well as population screening programs, and it can provide diagnostic cut-off values for individual plant sterols.

2024-07-01·Clínica e Investigación en Arteriosclerosis

Sitosterolemia familiar: reporte de dos casos en Colombia

Article

作者: Castillo, María Del Carmen ; Zapateiro, Jorge L ; Ruiz, María Elvira ; Nogueira, Juan Patricio ; Montoya, Laura ; Castellanos, Alejandro A

Sitosterolemia is an autosomal recessive and very rare disease. Its main characteristic is that there is a greater absorption and a decrease in the excretion of sterols, which leads to them being deposited in tissues. It is given by mutations in the ABCG5 or ABCG8 genes found on chromosome 2p21. In this clinical note, we describe the first two patients with familial sitosterolemia described in Colombia, brothers, one of them with xanthomas in extremities as the only symptom, and the other, completely asymptomatic. Genetic studies were performed as a diagnostic test in both patients, where a pathogenic homozygous variant could be identified in the ABCG8 gene in the first case (symptomatic), and a heterozygous variant in the ABCG8 gene in the second case (asymptomatic); the first patient has responded to treatment with ezetimibe. In conclusion, xanthomas should be studied in depth in pediatric age as they may be the only visible sign of such complex and hereditary diseases as familial sitosterolemia, which can be controlled and prevent cardiovascular complications of the disease.

项与谷甾醇血症相关的新闻（医药）

2024-07-04

·上海医药

上海医药依折麦布片获得批准生产

近日，上海医药控股子公司常州制药厂有限公司的依折麦布片收到国家药品监督管理局（以下简称“国家药监局”）颁发的《药品注册证书》（证书编号：2024S01240），该药品获得批准生产。基本情况药物名称依折麦布片剂型片剂规格 10mg 注册分类化学药品4类药品批准文号国药准字 H20244067 审批结论符合药品注册的有关要求，批准注册，发给药品注册证书。相关信息依折麦布片主要用于原发性高胆固醇血症、纯合子家族性高胆固醇血症（HoFH）和纯合子谷甾醇血症（或植物甾醇血症）等症状。最早 ORGANON 研发，并于2002年在美国上市。2022年12月，常州制药厂就该药品向国家药监局提出注册上市申请，并获受理。 IQVIA数据库显示，2023年该产品医院采购规模为人民币 55,213万元。根据国家相关政策，按新注册分类获批仿制药的品种在医保支付及医疗机构采购等领域将获得更大的支持力度。因此常州制药厂的依折麦布片获得批准生产，有利于扩大该药品的市场份额，提升市场竞争力，同时为公司后续产品开展仿制药申报积累了宝贵的经验。

带量采购申请上市一致性评价

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