The function of CX3CR1 receptors on circulating patrolling monocytes and other leukocytes determine the severity of emphysema in patients with ZZ genotype alpha-1-antitrypsin deficiency

Conditions: hereditary deficiency of the protein alpha-1-antitrypsin
stretched lungs
10083624
10024967

Registration Number: NL-OMON49069

Lead Sponsor: ongziekten

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Pending

Sex: Not specified

Target Recruitment: 56

Inclusion Criteria

In order to be eligible for PBMC sampling in this study, a subject must meet
all of the following criteria:
* Known ZZ-AATD genotype of study patient.
* Age between 30 and 75.
* Spouses with normal AAT genotype, as determined by a PCR kit:
AlphaKit-Quickscreen (see section 6.3, study procedures in study protocol).
* Spouses must have normal gas transfer values of the lungs.

Exclusion Criteria

A potential subject who meets any of the following criteria will be excluded
from participation in this study:
* ZZ-AATD patient or spouse are current smoker.
* Patients or spouses who had any type of infection in the previous 3 months.
* Patients or spouses who are treated for any type of cancer.
* Any co-morbidity that in the opinion of the investigator may interfere with
the interpretation of the primary outcome parameter of the study.

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>To identify the variability in the circulation of the number of patrolling<br /><br>monocytes and their expression of CX3CR1 obtained from adult ZZ-AATD patients<br /><br>compared to spouse controls.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>1) To identify if low expression of CX3CR1 on PBMC in blood is associated with<br /><br>the severity of emphysema in subjects with ZZ-AATD. (2) To identify if<br /><br>expression of chemokine receptors other than CX3CR1 on PBMC in blood is<br /><br>associated with the severity of emphysema associated with the severity of<br /><br>emphysema in subjects with ZZ-AATD. (3) to identify if damage of pulmonary<br /><br>microvascular endothelial cells (pMVECs) reflected by the level of plasma<br /><br>E-selectin EMP ( Endothelial Micro Particles, which are von-Willebrand<br /><br>negative) is correlated with any of the results identified in secondary<br /><br>objective nr 2. </p><br>