Personalized Cystic Fibrosis Therapy and Research Center

个性化囊性纤维化治疗和研究中心

• 批准号: 10477249
• 负责人: John Paul Clancy
• 金额: $ 113.78万
• 依托单位: CINCINNATI CHILDRENS HOSP MED CTR
• 依托单位国家: 美国
• 财政年份: 2018
• 资助国家: 美国
• 起止时间: 2018-08-01 至 2023-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10477249
• 关键词: Adult; Adverse effects; Applications Grants; Area; Basic Science; Biology; Boat; Caring; Center Core Grants; Characteristics; Childhood; Chloride Channels; Chronic; Clinical; Clinical Research; Clinical Sciences; Clinical Trials; Computerized Medical Record; Core Facility; Custom; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; DNA; Databases; Defect; Development; Endowment; Environment; Equipment; Faculty; Fostering; Foundations; Functional disorder; Funding; Future; Genetic; Genetic Variation; Genotype; Goals; Grant; Healthcare; Heart-Lung Machine; Hospitals; Individual; Industry; Infrastructure; Institution; Institutional Review Boards; Interdisciplinary Study; Laboratories; Leadership; Medical Education; Medical center; Methodology; Mission; Modeling; Mutation; National Institute of Diabetes and Digestive and Kidney Diseases; Ohio; Onset of illness; Oral Poliovirus Vaccine; Patient Care; Pediatric Hospitals; Pediatrics; Predisposition; Preparation; Privatization; Program Development; Regulator Genes; Reporting; Research; Research Activity; Research Contracts; Research Personnel; Research Project Grants; Resources; Rotavirus Vaccines; Scientist; Services; Site; Subgroup; System; Therapeutic Agents; Therapeutic Studies; Training Support; Translational Research; Translations; Treatment Efficacy; United States; United States National Institutes of Health; accurate diagnosis; base; children with cystic fibrosis; cohort; cystic fibrosis patients; drug development; drug discovery; early onset; early phase clinical trial; improved; individual patient; innovation; interest; molecular phenotype; news; novel therapeutics; patient population; personalized medicine; programs; research and development; research facility; square foot; surfactant; targeted treatment; therapeutic development; therapy outcome

SUMMARY/ABSTRACT Cystic Fibrosis results from the absence or dysfunction of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) chloride channel. Defects in CFTR are strongly associated with genetic variations in the CFTR gene that are unique to individual CF patients or to subgroups within the CF patient population. Thus, a personalized medicine approach helps customize care to individual CF patients based on the unique molecular and phenotypic characteristics associated with their CFTR gene. This will drive successful therapeutic outcomes and minimize potential adverse effects of chronic therapies. Given that our CF Center at CCHMC already has an excellent electronic medical record system (EPIC) and a site-specific IRB approved genotype database available for clinical and research use, we intend to leverage these capabilities to develop Personalized Cystic Fibrosis Therapy and Research Center (PCFC) for individual patients to (i) determine his/her susceptibility to a particular form of CF mutation, and ii) take steps to mitigate the early onset of the disease. Finally, the future of CF research offers the potential for a variety of CFTR-targeted therapies (i e., CFTR modulators) to treat the underlying cause of CF, with multiple modulators currently in different stages of development.

总结/摘要 囊性纤维化是由囊性纤维化跨膜传导的缺失或功能障碍引起的。 调节器（CFTR）氯离子通道。CFTR的缺陷与细胞中的遗传变异密切相关。 CFTR基因是个体CF患者或CF患者群体内的亚组所特有的。因此 个性化的医疗方法有助于根据独特的分子生物学特性为个体CF患者定制护理。 和与其CFTR基因相关的表型特征。这将推动成功的治疗 结果和最大限度地减少慢性治疗的潜在不良反应。鉴于我们在CCHMC的CF中心 已经有一个优秀的电子病历系统（EPIC）和一个特定的网站IRB批准的基因型 数据库可用于临床和研究用途，我们打算利用这些能力来开发 个性化囊性纤维化治疗和研究中心（PCFC）为个别患者（i）确定 他/她对特定形式的CF突变的易感性，以及ii）采取措施减轻 疾病最后，CF研究的未来为各种CFTR靶向疗法提供了潜力（即， CFTR调节剂）来治疗CF的根本原因，其中多种调节剂目前处于CF的不同阶段。 发展