GENETIC DISORDERS OF MUCOCILIARY CLEARANCE: RARE DISEASES: PCD, CF, & PHA

粘膜纤毛间隙遗传性疾病：罕见疾病：PCD、CF、

• 批准号: 7724741
• 负责人: Michael R Knowles
• 金额: $ 111.22万
• 依托单位: UNIV OF NORTH CAROLINA CHAPEL HILL
• 依托单位国家: 美国
• 财政年份: 2008
• 资助国家: 美国
• 起止时间: 2008-08-01 至 2009-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7724741
• 关键词: Arts; Biological Markers; Caring; Chest; Classification; Clinical; Clinical Practice Guideline; Clinical Research; Colorado; Computer Retrieval of Information on Scientific Projects Database; Cystic Fibrosis; Diagnosis; Diagnostic; Diagnostic Procedure; Diagnostic tests; Disease; Evaluation; Funding; Genetic; Genetic screening method; Goals; Grant; Hereditary Disease; Impairment; Infant; Institution; Longitudinal Studies; Lung diseases; Measurement; Medical; Methodology; Morbidity - disease rate; Mucociliary Clearance; North Carolina; Other Genetics; Pathogenesis; Patients; Pilot Projects; Primary Ciliary Dyskinesias; Professional Education; Pseudohypoaldosteronism; Rare Diseases; Research; Research Design; Research Personnel; Resources; Screening procedure; Site; Source; Study Subject; Techniques; Testing; Therapeutic Agents; Training Programs; United States National Institutes of Health; Universities; Variant; Washington; Work; base; cohort; design; early onset; follow-up; improved; innovation; mortality; novel therapeutics; respiratory; tool

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. DESCRIPTION (provided by applicant): The overall goal of this application is to establish a Rare Disease Clinical Research Center (RDCRC) at the University of North Carolina (UNC), and an associated Network of geographically-dispersed Airways Research Centers (ARCs), to study rare diseases of the airways. These 4 sites (UNC; Washington Univ., St. Louis; Univ. of Colorado, Denver; and Univ. of Washington, Seattle) will collaborate in diagnostic, genetic, and other studies in patients with genetic impairments in mucociliary clearance, specifically primary ciliary dyskinesia (PCD), variant forms of cystic fibrosis (CF), and pseudohypoaldosteronism (PHA). Patients with these unusual disorders with increased morbidity and mortality often have delayed (or incorrect) diagnoses, because diagnostic tests are not readily available. The two central hypotheses of this application are that: 1) a broad-based, systematic approach to the diagnostic evaluation of these patients will yield more precise diagnostic criteria and better diagnostic techniques, including genetic testing; and 2) systematic evaluation of specific cohorts of these patients with state-of-the-art methodologies and rigorous cross-sectional and longitudinal study designs will provide better understanding of the clinical pathogenesis of these disorders. In a five-year longitudinal study of 300 patients with PCD, we will use innovative techniques, including measurement of PFTs and HRCTs of the chest in infants, to define early onset and progression of pulmonary disease in PCD. In addition, 10 geographically-dispersed sites will serve as PCD Clinical Centers, to assist in the follow-up care of PCD patients in the longitudinal study. This collaborative effort will improve care by defining clinical practice guidelines for PCD. Our Pilot projects in PCD are designed to develop better diagnostic tools and biomarkers, characterize the respiratory pathobiology, evaluate novel therapeutic agents, and develop screening tests for PCD. We will extend our training programs in rare airways diseases to established and young investigators at UNC, and to investigators at other sites. Finally, we will work with the DTCC to coordinate and expand current websites to provide information to the lay public, patients, and medical professionals for education, referral, and recruitment of study subject

该副本是利用众多研究子项目之一 由NIH/NCRR资助的中心赠款提供的资源。子弹和 调查员（PI）可能已经从其他NIH来源获得了主要资金， 因此可以在其他清晰的条目中代表。列出的机构是 对于中心，这不一定是调查员的机构。 描述（由申请人提供）：本申请的总体目标是在北卡罗来纳大学（UNC）建立一个罕见的疾病临床研究中心（RDCRC），以及相关的地理散布气道研究中心（ARC）网络，以研究罕见的气道疾病。这四个地点（UNC；华盛顿大学，圣路易斯；丹佛大学；华盛顿大学，西雅图，西雅图大学）将在诊断，遗传和其他研究中合作在遗传障碍的患者中，在粘膜造成损害的患者中，特定于原发性睫状运动障碍（PCD），perestic纤维纤维的变化（pse）（pse）（cfa）（pse）和pse fiber（pse）（cf）（pse）和pse。这些异常疾病的发病率和死亡率升高的患者通常延迟（或不正确）诊断，因为诊断测试不容易获得。该应用程序的两个中心假设是：1）对这些患者进行诊断评估的广泛基于的，系统的方法将产生更精确的诊断标准和更好的诊断技术，包括基因检测； 2）对这些患者的特定人群进行系统评估，具有最先进的方法论以及严格的横断面和纵向研究设计，将为这些疾病的临床发病机理提供更好的了解。在一项针对300例PCD患者的五年纵向研究中，我们将使用创新技术，包括对婴儿中胸部的PFT和HRCT的测量，以定义PCD中肺部疾病的早期发作和进展。此外，在纵向研究中，将有10个地理分散的地点作为PCD临床中心，以协助对PCD患者进行后续护理。这种协作的工作将通过定义PCD的临床实践指南来改善护理。我们在PCD中的试点项目旨在开发更好的诊断工具和生物标志物，表征呼吸道病理学，评估新型治疗剂并开发PCD筛查测试。我们将在稀有气道疾病中将培训计划扩展到UNC的既定和年轻调查人员，以及其他地点的调查人员。最后，我们将与DTCC合作协调和扩展当前网站，以向外行公众，患者和医疗专业人员提供教育，推荐和招聘研究主题的信息。