The Identification of Phenotypes in Patients With Severe Chronic Obstructive Pulmonary Disease
The Identification of Phenotypes in Patients With Severe Chronic Obstructive Pulmonary Disease
Rationale: Chronic Obstructive Pulmonary Disease (COPD) is defined by airway obstruction.
 However, the degree of airflow limitation does not adequately describe the complexity of COPD
 because significant heterogeneity exists between patients with respect to their clinical
 presentation, physiology, imaging, response to therapy, decline in lung function and
 survival. Currently, a clear alternative for describing COPD does not exist but the
 identification of subgroups of COPD patients based on clinical or genomic and epigenomic
 factors (phenotypes) could be useful. The continuous flow of very severe COPD patients to the
 UMCG gives the investigators the unique opportunity to perform a study on the phenotypes of
 very severe COPD and the underlying gene-environment interaction. The investigators
 anticipate that the findings of this study will lead to an earlier identification of those
 subjects who are at risk to develop severe or very severe COPD. In addition, it will lead to
 a better clinical characterisation of established COPD, possibly enabling a more tailored
 treatment of different COPD subphenotypes.

 Objectives:

 Primary Objective:

 To identify new clinical phenotypes in patients with severe chronic obstructive pulmonary
 disease (COPD) using a cluster analysis.

 Secondary Objectives:

 To:

 -  identify clinical phenotypes (based on e.g. lung function, clinical, radiologic,
 systemic, pathological and immunological parameters) in patients with severe COPD.

 -  identify endotypes/ intermediate phenotypes in patients with severe COPD.

 -  investigate the contribution of (epi)genomics (including genetics and gene expression)
 to characterize patients with subsets of severe COPD.

 Study design: Observational cross-sectional study with a 2 phase design

 Study population: Patients with severe COPD who are referred to the UMCG for a consultation
 on lung transplantation or bronchoscopic lung volume reduction.
Rationale: Chronic Obstructive Pulmonary Disease (COPD) is defined by airway obstruction.
 However, the degree of airflow limitation does not adequately describe the complexity of COPD
 because significant heterogeneity exists between patients with respect to their clinical
 presentation, physiology, imaging, response to therapy, decline in lung function and
 survival. Currently, a clear alternative for describing COPD does not exist but the
 identification of subgroups of COPD patients based on clinical or genomic and epigenomic
 factors (phenotypes) could be useful. The continuous flow of very severe COPD patients to the
 UMCG gives the investigators the unique opportunity to perform a study on the phenotypes of
 very severe COPD and the underlying gene-environment interaction. The investigators
 anticipate that the findings of this study will lead to an earlier identification of those
 subjects who are at risk to develop severe or very severe COPD. In addition, it will lead to
 a better clinical characterisation of established COPD, possibly enabling a more tailored
 treatment of different COPD subphenotypes.

 Objectives:

 Primary Objective:

 To identify new clinical phenotypes in patients with severe chronic obstructive pulmonary
 disease (COPD) using a cluster analysis.

 Secondary Objectives:

 To:

 -  identify clinical phenotypes (based on e.g. lung function, clinical, radiologic,
 systemic, pathological and immunological parameters) in patients with severe COPD.

 -  identify endotypes/ intermediate phenotypes in patients with severe COPD.

 -  investigate the contribution of (epi)genomics (including genetics and gene expression)
 to characterize patients with subsets of severe COPD.

 Study design: Observational cross-sectional study with a 2 phase design

 Study population: Patients with severe COPD who are referred to the UMCG for a consultation
 on lung transplantation or bronchoscopic lung volume reduction.

 Main study parameters: The main study parameter is the identification of new clinical
 phenotypes. The collected data will allow us to identify new phenotypes, clusters of patients
 with comparable characteristics. These phenotypes are potentially based on a combination of
 lung function, clinical, radiologic, systemic and genomic parameters and endotypes, in
 patients with severe COPD.
Inclusion Criteria:

 -  Referral to the LVR intervention team or LTx team of the (UMCG).

 -  Chronic Obstructive Pulmonary Disease (COPD) according the Global initiative for
 Chronic Obstructive Lung Disease (GOLD) criteria (post bronchodilator FEV1/FVC <
 0.7)[1]

 -  Written informed consent.

 Exclusion Criteria:

 - There are no exclusion criteria for this study.