Alpha-1 Carrier Genomics Study
NCT02810327 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 117
Last updated 2019-07-22
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
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