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Genomic Research in Alpha-1 Antitrypsin Deficiency

NCT01832220 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 140

Last updated 2016-01-12

No results posted yet for this study

Summary

This project is designed to examine the interaction between the microflora in the lower airway and the concentration of a serum protein called alpha-1 antitrypsin. The hypothesis is that alpha-1 antitrypsin impacts the diversity and content of the lower airway microflora, resulting in a less inflammatory airway.

The Specific Aims are:

1. To compare the lower respiratory tract microbiome and virome population diversity and content in age and GOLD stage matched PiZZ individuals not receiving augmentation therapy, PiZZ individuals on augmentation therapy, PiMZ individuals not receiving augmentation therapy, and PiMM individuals with chronic obstructive pulmonary disease (COPD).
2. Determine correlations between bronchoalveolar lavage (BAL) and peripheral blood gene expression patterns and patterns in lung microbial and viral populations across all cohorts.
3. Correlate the presence or absence of computed tomography (CT) bronchiectasis and bronchiolectasis with patterns in the microbiome population diversity and content.
4. To identify and define novel molecular phenotypes of Alpha-1 Antitrypsin Deficiency (AATD) based on computational integration of clinical, transcriptomic, and microbiome data.

Conditions

  • Alpha 1 Antitrypsin Deficiency
  • AATD

Sponsors & Collaborators

  • National Heart, Lung, and Blood Institute (NHLBI)

    collaborator NIH

  • University of Pittsburgh

    lead OTHER

Principal Investigators

  • Naftali Kaminski, MD · Yale University

  • Stephen Wisniewski, PhD · University of Pittsburgh

  • Michael Becich, MD, PhD · University of Pittsburgh

Eligibility

Min Age
40 Years
Max Age
80 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2013-05-31
Primary Completion
2015-06-30
Completion
2015-09-30

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01832220 on ClinicalTrials.gov