Rationale and Design of the Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis (GRADS) Study. Sarcoidosis Protocol
Autor: | Moller, David R, Koth, Laura L, Maier, Lisa A, Morris, Alison, Drake, Wonder, Rossman, Milton, Leader, Joseph K, Collman, Ronald G, Hamzeh, Nabeel, Sweiss, Nadera J, Zhang, Yingze, O'Neal, Scott, Senior, Robert M, Becich, Michael, Hochheiser, Harry S, Kaminski, Naftali, Wisniewski, Stephen R, Gibson, Kevin F, GRADS Sarcoidosis Study Group |
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Rok vydání: | 2015 |
Předmět: |
Adult
Male Sarcoidosis Adolescent phenotype microbiome Bronchoalveolar Lavage Autoimmune Disease lung Cohort Studies Young Adult Clinical Research alpha 1-Antitrypsin Deficiency Bronchoscopy 80 and over Genetics Humans 2.1 Biological and endogenous factors Aetiology Tomography Aged Emphysema GRADS Sarcoidosis Study Group screening and diagnosis Microbiota Human Genome Genomics Middle Aged X-Ray Computed Respiratory Function Tests 4.1 Discovery and preclinical testing of markers and technologies Detection Research Design Female Self Report transcriptome Biomarkers |
Zdroj: | Annals of the American Thoracic Society, vol 12, iss 10 |
Popis: | Sarcoidosis is a systemic disease characterized by noncaseating granulomatous inflammation with tremendous clinical heterogeneity and uncertain pathobiology and lacking in clinically useful biomarkers. The Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis (GRADS) study is an observational cohort study designed to explore the role of the lung microbiome and genome in these two diseases. This article describes the design and rationale for the GRADS study sarcoidosis protocol. The study addresses the hypothesis that distinct patterns in the lung microbiome are characteristic of sarcoidosis phenotypes and are reflected in changes in systemic inflammatory responses as measured by peripheral blood changes in gene transcription. The goal is to enroll 400 participants, with a minimum of 35 in each of 9 clinical phenotype subgroups prioritized by their clinical relevance to understanding of the pathobiology and clinical heterogeneity of sarcoidosis. Participants with a confirmed diagnosis of sarcoidosis undergo a baseline visit with self-administered questionnaires, chest computed tomography, pulmonary function tests, and blood and urine testing. A research or clinical bronchoscopy with a research bronchoalveolar lavage will be performed to obtain samples for genomic and microbiome analyses. Comparisons will be made by blood genomic analysis and with clinical phenotypic variables. A 6-month follow-up visit is planned to assess each participant's clinical course. By the use of an integrative approach to the analysis of the microbiome and genome in selected clinical phenotypes, the GRADS study is powerfully positioned to inform and direct studies on the pathobiology of sarcoidosis, identify diagnostic or prognostic biomarkers, and provide novel molecular phenotypes that could lead to improved personalized approaches to therapy for sarcoidosis. |
Databáze: | OpenAIRE |
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