Open Label, Single Center, Nonrandomized Study Comparing Efficacy of To Be Marketed Cholic Acid With That of the Currently Used Formulation of Cholic Acid Capsules Used to Treat Children With Inborn Errors of Bile Acid Synthesis

This is a study in a small population of children who have inborn errors of bile acid synthesis who are currently taking established doses of the currently used cholic acid capsules prepared at the Cincinnati Children's Hospital Pharmacy. The study is designed to compare the efficacy of these currently used capsules with the efficacy of the same treatment provided in a cholic acid capsule that is made by a company that will be marketed after FDA approval.
At baseline, patients receive established doses of cholic acid capsules prepared at the Cincinnati Children's Hospital Medical Center Pharmacy. During the study, patients receive the same treatment provided in the to-be-marketed (TBM) cholic acid capsule. Hence, patients serve as their own controls, with baseline values presenting the reference value (CCHMC cholic acid capsule) and values after 30 days treatment presenting the value for the investigational treatment (TBM cholic acid capsule).

开始日期2010-04-01

申办/合作机构

Mirum Pharmaceuticals, Inc.

NCT01438411 / Completed临床3期

An Open Label, Single Center, Nonrandomized Continuation Study of Cholic Acid Capsules to Treat Subjects With Inborn Errors of Bile Acid Synthesis

The primary purpose of the study is to evaluate the therapeutic efficacy and safety of cholic acid in subjects with identified inborn errors of bile acid synthesis.

开始日期2010-01-01

申办/合作机构

Mirum Pharmaceuticals, Inc.

100 项与先天性胆汁酸合成障碍相关的临床结果

登录后查看更多信息

100 项与先天性胆汁酸合成障碍相关的转化医学

登录后查看更多信息

0 项与先天性胆汁酸合成障碍相关的专利（医药）

登录后查看更多信息

项与先天性胆汁酸合成障碍相关的文献（医药）

2023-06-05·Pediatric blood & cancer

Transient myelodysplasia triggered by parvovirus B19 infection in a male with inborn error of bile acid metabolism.

Letter

作者: Hayashi, Hiroshi ; Nittono, Hiroshi ; Yuza, Yuki ; Kawakami, Makio ; Tanaka, Katsuyuki ; Inui, Ayano ; Imagawa, Kazuo

2019-05-01·Pediatrics International4区 · 医学

Use of dried urine spots for screening of inborn errors of bile acid synthesis

4区 · 医学

Article

作者: Oh, Seek‐hi ; Suzuki, Mitsuyoshi ; Kimura, Akihiko ; Takei, Hajime ; Murai, Tsuyoshi ; Naritaka, Nakayuki ; Shimizu, Toshiaki ; Zhang, Chunhua ; Nittono, Hiroshi ; Chen, Huey‐Ling ; Kaewplang, Pinyada ; Kurosawa, Takao

AbstractBackgroundIn pediatric patients with cholestasis of unknown cause, inborn errors of bile acid (BA) synthesis (IEBAS) may be considered. For the initial screening for IEBAS, clarification of the urine BA profile is essential. The transportation of urine in a frozen state via air delivery, however, is laborious and costly. This study assessed the feasibility of using dried urine spots (DUS) to establish a more convenient and affordable method of IEBAS screening.MethodsWe created DUS using urine samples from patients with 3β‐hydroxy‐Δ5‐C27‐steroid dehydrogenase/isomerase deficiency (3β‐HSD) and Δ4‐3‐oxo‐steroid 5β‐reductase deficiency as standard preparations. We started accepting DUS specimens by regular mail.ResultsThe ratio of unusual to usual BA is essential for the initial detection of IEBAS, and the recovery rates of abnormal BA were acceptable. The recovery rate of Δ4‐BA on day 28 decreased to 31.8% at 25°C, and to 19.6% at 37°C. Therefore, the sending of DUS should be avoided under conditions of high temperature. Of a total of 49 children with cholestasis, eight new patients were diagnosed with IEBAS using this screening method.ConclusionThe mailing screening system is expected to facilitate the shipment, from regions outside of Japan, of samples for IEBAS screening.

2012-06-01·Clinics and Research in Hepatology and Gastroenterology4区 · 医学

Progressive familial intrahepatic cholestasis and inborn errors of bile acid synthesis

4区 · 医学

Article

作者: Irena Jankowska ; Piotr Socha

Progressive familial intrahepatic cholestasis (PFIC), types 1, 2 and 3, are due to defects in genes involved in bile secretion (FIC1, BSEP, MDR3). PFIC and inborn errors of bile acid synthesis (IEBAS) often present in infancy with cholestasis. The distinctive feature of PFIC 1 and 2 and IEBAS is a normal level of GGT, while IEBAS are suspected in patients with low plasma bile acids concentration. Molecular testing, urinary bile acid analysis (IEBAS), liver biopsy and immuno-staining are used for the diagnosis. Some patients with PFIC can be successfully treated with ursodeoxycholic acid or partial external biliary diversion. IEBAS is treated with cholic acid. Liver transplantation is required for cirrhosis with liver failure. Hepatocarcinoma has been reported in PFIC2.

项与先天性胆汁酸合成障碍相关的新闻（医药）

2024-03-14

·医药地理

2023年日本批准新药情况

2023年度，日本独立行政法人医药品医疗器械综合机构（PMDA）公布的批准新药数为106个（PMDA对于新药的定义是其有效成分、数量、用法、剂量、功效等与已批准药物有明显区别的药物，主要是含有新活性成分药物、新复方药物、新给药途径药物、新适应症药物、新剂型药物、新剂量药物等）。其中，有新活性成分新药的数量为30个。2023年的新活性成分新药中，疫苗和肿瘤药占总数的1/3，按照PMDA分类批准的各类别的新药情况如下图所示（左边列表审查类别按从多到少排序）。图1：2023各审查类别新药情况来源：Pharma ONE智能药物大数据分析平台，中国医药工业信息中心对比2022年度的新活性成分新药情况，可以看出，2023年度批准的新活性成分新药要比2022年度少，在疫苗、血制品、泌尿药、肛肠药、医疗用复方药类别中，2023年的新药数量比2022年多。图2：新活性成分新药审查类别情况来源：Pharma ONE智能药物大数据分析平台，中国医药工业信息中心在新活性成分新药中，有8个新药由PMDA批准指定为孤儿药。其中，胆酸是ReqMed和CTRS(现Theravia)共同开发用于治疗先天性胆汁酸合成障碍，CTRS社的胆酸曾在2013获得欧盟批准用于治疗先天性胆汁酸合成障碍的3β-HSD缺乏症。UCB开发的罗泽利昔珠单抗用于治疗全身型重症肌无力，是抗FcRn的人源化IgG4单克隆抗体制剂，抑制FcRn介入IgG循环路径，来降低致病性IgG浓度。PMDA批准的新活性成分孤儿药具体品类见下表。表1：2023年PMDA批准的新活性成分孤儿药除了孤儿药外，有3个PMDA优先审批通过的新活性成分新药，如下。表2：2023年PMDA优先审批批准的新活性成分新药2023年度PMDA批准的新活性成分新药中，UCB开发的齐芦克布仑为全球首次批准，用于治疗全身型重症肌无力。Eli Lilly开发的米吉珠单抗为全球首次批准上市，用于治疗现有治疗效果不理想的中度至重度溃疡性结肠炎。Genmab开发的艾可瑞妥单抗为全球首次上市，用于治疗复发或难治性弥漫性大B细胞淋巴瘤和复发或难治性滤泡性淋巴瘤。2023年度PMDA批准的全部新活性成分新药具体如下表所示。表3：2023年PMDA批准的新活性成分新药END如需获取更多数据洞察信息或公众号内容合作，请联系医药地理小助手微信号：pharmadl001

孤儿药上市批准优先审批