Personalized Cystic Fibrosis Therapy and Research Center

个性化囊性纤维化治疗和研究中心

基本信息

批准号：
10017681
负责人：
John Paul Clancy
金额：
$ 115.81万
依托单位：
CINCINNATI CHILDRENS HOSP MED CTR
依托单位国家：
美国
项目类别：
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/10017681
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

项目摘要

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.

摘要/摘要囊性纤维化是由于囊性纤维化跨膜电导缺失或功能障碍引起的调节剂 (CFTR) 氯离子通道。 CFTR 缺陷与基因变异密切相关 CFTR 基因对于个体 CF 患者或 CF 患者群体中的亚组是独特的。因此，一个个性化医疗方法有助于根据独特的分子特征为个体 CF 患者定制护理以及与其 CFTR 基因相关的表型特征。这将推动成功的治疗结果并最大限度地减少长期治疗的潜在副作用。鉴于我们位于 CCHMC 的 CF 中心已经拥有优秀的电子病历系统 (EPIC) 和特定地点 IRB 批准的基因型可供临床和研究使用的数据库，我们打算利用这些功能来开发个性化囊性纤维化治疗和研究中心 (PCFC) 为个体患者 (i) 确定他/她对特定形式的 CF 突变的易感性，并且 ii) 采取措施减轻早期发作疾病。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，目前有多种调节剂处于不同阶段发展。