Study Results
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View full resultsBasic Information
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COMPLETED
117 participants
OBSERVATIONAL
2015-02-28
2017-04-30
Brief Summary
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Detailed Description
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The Alpha-1 Carrier Genomics study is a pilot study that will enroll up to 150 MZ individuals. COPD+ and COPD- individuals will be matched on age, sex, race and smoking history. Presence and severity of COPD is assessed by a COPD severity score on questionnaires. Participants will be mailed a test kit to obtain and return a blood sample by finger stick for the purpose of SERPINA1 gene sequencing. Gene sequencing will identify, if present, genomic signatures that may correlate with COPD in this cohort. Participants will receive their results and access to genetic counseling at the conclusion of this study.
Conditions
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Study Design
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CASE_CONTROL
CROSS_SECTIONAL
Study Groups
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MZ heterozygote with symptoms of COPD
Individuals who have previously had testing for Alpha-1 antitrypsin deficiency with genotype MZ (PiMZ) results. Individuals in this cohort have symptoms or clinical diagnosis of COPD.
Genetic Sequencing
Sequencing of the SERPINA1 gene
MZ heterozygote without symptoms of COPD
Individuals who have previously had testing for Alpha-1 antitrypsin deficiency with genotype MZ (PiMZ) results. Individuals in this cohort do not have symptoms or clinical diagnosis of COPD.
Genetic Sequencing
Sequencing of the SERPINA1 gene
Interventions
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Genetic Sequencing
Sequencing of the SERPINA1 gene
Eligibility Criteria
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Inclusion Criteria
2. PiMZ individuals who fall into the lower quartile of AAT levels.
Exclusion Criteria
2. Known homozygous or compound heterozygous classic severe AATD (e.g. PiSZ, ZZ, Znull)
18 Years
ALL
No
Sponsors
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CSL Behring
INDUSTRY
Medical University of South Carolina
OTHER
Responsible Party
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Principal Investigators
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Charlie Strange, MD
Role: PRINCIPAL_INVESTIGATOR
Medical University of South Carolina
Locations
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Medical University of South Carolina. Division of Pulmonary and Critical Care Medicine
Charleston, South Carolina, United States
Countries
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References
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Demeo DL, Sandhaus RA, Barker AF, Brantly ML, Eden E, McElvaney NG, Rennard S, Burchard E, Stocks JM, Stoller JK, Strange C, Turino GM, Campbell EJ, Silverman EK. Determinants of airflow obstruction in severe alpha-1-antitrypsin deficiency. Thorax. 2007 Sep;62(9):806-13. doi: 10.1136/thx.2006.075846. Epub 2007 Mar 27.
Molloy K, Hersh CP, Morris VB, Carroll TP, O'Connor CA, Lasky-Su JA, Greene CM, O'Neill SJ, Silverman EK, McElvaney NG. Clarification of the risk of chronic obstructive pulmonary disease in alpha1-antitrypsin deficiency PiMZ heterozygotes. Am J Respir Crit Care Med. 2014 Feb 15;189(4):419-27. doi: 10.1164/rccm.201311-1984OC.
Eisner MD, Trupin L, Katz PP, Yelin EH, Earnest G, Balmes J, Blanc PD. Development and validation of a survey-based COPD severity score. Chest. 2005 Jun;127(6):1890-7. doi: 10.1378/chest.127.6.1890.
Foil KE, Blanton MG, Sanders C, Kim J, Al Ashry HS, Kumbhare S, Strange C. Sequencing Alpha-1 MZ Individuals Shows Frequent Biallelic Mutations. Pulm Med. 2018 Sep 5;2018:2836389. doi: 10.1155/2018/2836389. eCollection 2018.
Provided Documents
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Document Type: Study Protocol
Document Type: Informed Consent Form
Document Type: Statistical Analysis Plan
Other Identifiers
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Pro00036911
Identifier Type: -
Identifier Source: org_study_id
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