PTC124 AS AN ORAL TREATMENT FOR NONSENSE-MUTATION-MEDIATED CYSTIC FIBROSIS

PTC124 作为无义突变介导的囊性纤维化的口服治疗药物

• 批准号: 7605255
• 负责人: RICHARD Barry MOSS
• 金额: $ 1.4万
• 依托单位: STANFORD UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-02-15 至 2007-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7605255
• 关键词: Animals; Cells; Computer Retrieval of Information on Scientific Projects Database; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Dose; Funding; Genes; Grant; Hereditary Disease; Human; Institution; Intestines; Investigational Drugs; Label; Lung; Mediating; Mutation; Nonsense Mutation; Oral; Patients; Persons; Pharmaceutical Preparations; Phase; Production; Proteins; Purpose; Range; Research; Research Personnel; Resources; Safety; Site; Source; United States National Institutes of Health; Work; aged; base; neuronal cell body

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. This study is a Phase II, multi-site, open-label, dose-ranging, efficacy, safety, and PK study of PTC124 in subjects aged greater than or equal to 18 years with nonsense-mutation-mediated Cystic Fibrosis (CF). CF is caused by an abnormality in the gene that carries the message for making the CF transmembrane regulator (CFTR) protein. Although there are several reasons why the CFTR protein may be abnormal, sometimes the abnormality leads to a defective CFTR protein which is called a premature stop (also called a nonsense mutation) in the gene for the CFTR protein. Because of this nonsense mutation, the CFTR protein made in the cells of the body (for example, in the cells of the airways, lungs, or bowel) is abnormal and does not work properly. This study involves an investigational drug called PTC124. The drug has the potential to overcome the genetic defect in patients with nonsense mutations as the basis for cystic fibrosis and other genetic disorders. Studies in animals with a nonsense mutation indicate that PTC124 may partially restore the activity of the CFTR protein. The main purpose of this study is to understand whether PTC124 can safely be given to humans and whether it will increase production of active CFTR protein in the person's body.

该子项目是利用该技术的众多研究子项目之一 资源由 NIH/NCRR 资助的中心拨款提供。子项目和 研究者 (PI) 可能已从 NIH 的另一个来源获得主要资金， 因此可以在其他 CRISP 条目中表示。列出的机构是 对于中心来说，它不一定是研究者的机构。 这项研究是 PTC124 的一项 II 期、多中心、开放标签、剂量范围、疗效、安全性和 PK 研究，受试者对象为年龄大于或等于 18 岁的无义突变介导的囊性纤维化 (CF) 受试者。 CF 是由携带制造 CF 跨膜调节蛋白 (CFTR) 蛋白信息的基因异常引起的。虽然CFTR蛋白异常的原因有多种，但有时异常会导致CFTR蛋白有缺陷，这被称为CFTR蛋白基因的过早停止（也称为无义突变）。由于这种无义突变，身体细胞（例如气道、肺或肠细胞）中产生的 CFTR 蛋白出现异常，无法正常工作。 这项研究涉及一种名为 PTC124 的研究药物。该药物有潜力克服无义突变患者的遗传缺陷，这是囊性纤维化和其他遗传性疾病的基础。对具有无义突变的动物的研究表明，PTC124 可能部分恢复 CFTR 蛋白的活性。 这项研究的主要目的是了解PTC124是否可以安全地给予人类，以及它是否会增加人体内活性CFTR蛋白的产生。