Alpha-1 Carrier Genomics Study

NCT02810327 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 117

Last updated 2019-07-22

Study results available
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Summary

The goal of this study is to better understand why some Alpha-1 genotype MZ (PiMZ) individuals develop chronic obstructive pulmonary disease (COPD) while others do not. This study will examine portions of the Alpha-1 gene that are not routinely tested to determine whether other changes in this gene correlate with development and progression of COPD. Participation involves responding to questionnaires about lung health and history, and performing an at-home finger stick to obtain blood spots using a test kit that is mailed. The blood provided will be used for genetic testing and correlation of results with COPD history. Participants will receive their results and access to genetic counseling at the conclusion of the study.

Conditions

  • Alpha-1 Antitrypsin Deficiency
  • Emphysema
  • COPD
  • Smoking

Interventions

GENETIC

Genetic Sequencing

Sequencing of the SERPINA1 gene

Sponsors & Collaborators

  • CSL Behring

    collaborator INDUSTRY
  • Medical University of South Carolina

    lead OTHER

Principal Investigators

  • Charlie Strange, MD · Medical University of South Carolina

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2015-02-28
Primary Completion
2017-04-30
Completion
2017-04-30

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

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 NCT02810327 on ClinicalTrials.gov