RARE GENETIC DISORDERS OF THE AIRWAYS

罕见的气道遗传性疾病

• 批准号: 7605117
• 负责人: Scott D SAGEL
• 金额: $ 0.37万
• 依托单位: UNIVERSITY OF COLORADO DENVER
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-03-01 至 2008-02-29
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7605117
• 关键词: Bronchitis; Caring; Centers of Research Excellence; Chronic; Classification; Clinical; Clinical Research; Colorado; Computer Retrieval of Information on Scientific Projects Database; Cystic Fibrosis; Defect; Development; Diagnosis; Diagnostic; Diagnostic Procedure; Diagnostic tests; Disease; Evaluation; Evidence Based Medicine; Funding; Genetic screening method; Grant; Hereditary Disease; Host Defense; Individual; Infection; Institution; Lead; Mucociliary Clearance; Mucous body substance; Mutation; Nature; North Carolina; Otitis Media; Patients; Pediatric Hospitals; Persons; Phenotype; Primary Ciliary Dyskinesias; Protocols documentation; Pseudohypoaldosteronism; Rare Diseases; Research; Research Personnel; Resources; Sinus; Sinusitis; Site; Source; Standards of Weights and Measures; Treatment Protocols; United States National Institutes of Health; Universities; Variant; Washington; design; novel therapeutics

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. Patients with defects in clearance of mucus secretions from the airways (defective "mucociliary clearance"), including primary ciliary dyskinesia (PCD), variant cystic fibrosis (CF), and pseudohypoaldosteronism (PHA) reflect genetic defects in airway host defense, and typically result in chronic infection of the airways manifest as chronic otitis media, sinusitis, and bronchitis. Patients with these disorders of the conducting airways and sinuses have delayed (or incorrect) diagnoses, because diagnostic tests are not readily available. These patients may also have sub-optimal management of their clinical disease, because the cause of these disorders is not well-defined, and treatment regimens are usually not driven by evidence-based medicine. This current protocol is designed to employ a systematic approach to the diagnostic evaluation of these patients with chronic airways disease, which will yield more precise diagnoses in individual patients, and will be associated with development of better diagnostic techniques, including genetic testing. In addition, we will compare/contrast clinical features (phenotype) across these disorders. In this protocol, the systematic evaluation of these patients and a rigorous cross-sectional comparison of the clinical features will provide better understanding of the nature of the clinical disease of these disorders. In turn, this will lead not only to a better standard of clinical care, but will also assist in the identification of novel therapeutic approaches. We will be one of four Airway Research Center (ARC) sites to form a network of geographically-dispersed clinical research centers to study rare diseases of the airways. The 4 sites which include the University of North Carolina at Chapel Hill, Washington University in St. Louis, University of Washington in Seattle, and The Children's Hospital at the University of Colorado have formed the Genetic Disorders of Mucociliary Clearance Consortium under the umbrella of the Rare Diseases Clinical Research Network (RDCRN) which is funded by the NIH. The RDCRN website is http://www.rarediseasesnetwork.org/. We intend to become "Centers of Excellence" for the research and care of persons with PCD and other rare airway diseases.

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。 气道粘液分泌物清除缺陷（“粘液纤毛清除缺陷”）的患者，包括原发性纤毛运动障碍 (PCD)、变异性囊性纤维化 (CF) 和假性醛固酮增多症 (PHA)，反映了气道宿主防御的遗传缺陷，通常会导致气道慢性感染，表现为慢性中耳炎、鼻窦炎和 支气管炎。患有这些气道和鼻窦疾病的患者会延迟（或错误）诊断，因为诊断测试不易获得。这些患者的临床疾病治疗也可能不是最佳，因为这些疾病的病因尚不明确，而且治疗方案通常不是由循证医学驱动的。 目前的方案旨在采用系统方法对这些患有慢性气道疾病的患者进行诊断评估，这将为个体患者提供更精确的诊断，并将与更好的诊断技术（包括基因检测）的开发相关。 此外，我们将比较/对比这些疾病的临床特征（表型）。 在本方案中，对这些患者的系统评估和临床特征的严格横断面比较将有助于更好地了解这些疾病的临床疾病的性质。 反过来，这不仅会带来更好的临床护理标准，而且还将有助于确定新的治疗方法。 我们将成为四个气道研究中心 (ARC) 站点之一，形成地理上分散的临床研究中心网络，以研究罕见的气道疾病。 北卡罗来纳大学教堂山分校、华盛顿大学圣路易斯分校、西雅图华盛顿大学和科罗拉多大学儿童医院等 4 个机构在美国国立卫生研究院 (NIH) 资助的罕见疾病临床研究网络 (RDCRN) 的保护下组建了粘膜纤毛清除遗传疾病联盟。 RDCRN 网站是 http://www.rarediseasesnetwork.org/。 我们打算成为研究和护理 PCD 和其他罕见气道疾病患者的“卓越中心”。