权益分类	功能权益	普通用户	{{item.name}}会员
{{category.name}}	{{benefitItem.name}}

Alpha-1 Antitrypsin Disease Cohort: Longitudinal Biomarker Study of Disease

Alpha-1 抗胰蛋白酶疾病队列：疾病的纵向生物标志物研究

基本信息

批准号：
10514976
负责人：
Jeanine M D'Armiento
金额：
$ 117.79万
依托单位：
COLUMBIA UNIVERSITY HEALTH SCIENCES
依托单位国家：
美国
项目类别：
财政年份：
2020
资助国家：
美国
起止时间：
2020-08-20 至 2026-06-30
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10514976
关键词：
Address Biological Biological Markers Characteristics Chest Chronic Obstructive Pulmonary Disease Clinical Clinical Data Clinical Research Clinical Trials Collaborations Contracts DNA Data Databases Dimensions Disease Disease Outcome Disease Progression Enhancers Enrollment Equilibrium Foundations Fractals Funding Generations Genes Genetic Genetic Polymorphism Genotype Goals Heritability Image In Vitro Individual Inflammatory Response Informed Consent Injury Institution Institutional Review Boards Knowledge Leukocyte Elastase Link Liver diseases Longitudinal cohort Lung Lung diseases Manuals Matrix Metalloproteinases Measurement Measures Mechanics Mutation Natural History Participant Pathogenesis Patient Care Patients Peptide Hydrolases Phase Phenotype Plasma Population Preparation Procedures Prognosis Prospective cohort Protease Inhibitor Protocols documentation Pulmonary Emphysema Registries Research Research Infrastructure Research Personnel Role Secure Series Serine Proteinase Inhibitors Serum Severities Sputum Testing Time Validation airway remodeling alpha 1-Antitrypsin alpha 1-Antitrypsin Deficiency base biomedical informatics clinical heterogeneity clinical research site clinically relevant cohort data access data sharing disease heterogeneity disease phenotype exome sequencing imaging biomarker imaging modality immune function improved induced pluripotent stem cell macrophage multidisciplinary novel novel marker participant retention promoter prospective pulmonary function decline recruit response specific biomarkers therapeutically effective treatment strategy user-friendly

项目摘要

PROJECT SUMMARY Alpha-1 antitrypsin deficiency (AATD) is the most common genetic cause of chronic obstructive pulmonary disease (COPD). Individuals with AATD have extremely low levels of plasma AAT, a serine protease inhibitor that inactivates neutrophil elastase and matrix metalloproteinases to maintain the protease-antiprotease balance in the lung. Although research has contributed to an understanding of the pathogenesis of AATD much remains to be defined regarding its natural history, treatment strategies and clinical course. The most fundamental barrier to effective therapeutic approaches to AATD is a lack of suitable biomarkers that are specific for disease progression or correlate with a specific disease phenotype. Furthermore, we lack a complete understanding of the genetic and phenotypic characteristics of this disease. Therefore, the present initiative will first form a prospective cohort of individuals with AATD (Alpha-1 Clinical Cohort, A1CC) and subsequently identify individuals from that cohort to enter into a biomarker study through the collaborative Alpha-1 Biomarker Research Consortium (A1BReC). In the context of the A1BReC, fundamental studies will be performed to elucidate genotype/phenotype relationships in the disease and explore further mechanistic studies in the pathogenesis of AATD. UG3 Phase: The primary goal of this phase will be in collaboration with the Alpha-1 Foundation to place the present Alpha-1 contact registry into a fully integrated and user-friendly Alpha-1 Clinical Cohort managed by the Alpha-1 Foundation. The A1CC will provide for public data access of de- identified information through an i2b2 query module. The secondary goal is to finalize the study protocol, informed consent, manual of procedures, execute clinical site contracts and gain IRB approvals for the UH3 phase of the protocol. UH3 Phase: To test the hypothesis that biomarkers in serum and sputum of a population of AATD with lung disease will correlate with imaging biomarkers that can predict prognosis and outcome of disease and identify genotype/phenotype correlations in a population of AATD patients with lung disease through comparisons with AATD patients without lung disease.

项目总结