Alpha-1 Carrier Genomics Study

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.

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Key information

Conditions

Alpha-1 Antitrypsin Deficiency Behavior COPD Chronic Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Digestive System Diseases Disease Attributes Emphysema Genetic Diseases, Inborn Liver Diseases Lung Diseases Lung Diseases, Obstructive Pathologic Processes Pathological Conditions, Signs and Symptoms Pulmonary Disease, Chronic Obstructive Respiratory Tract Diseases Smoking Subcutaneous Emphysema alpha 1-Antitrypsin Deficiency

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Medical University of South Carolina. Division of Pulmonary and Critical Care Medicine

Charleston, South Carolina, 29425, United States

About this study

Alpha-1 Antitrypsin Deficiency (AATD, Alpha-1) is the best established genetic risk factor for chronic obstructive pulmonary disease (COPD) and liver disease. Clinical presentation is heterogeneous in most genotypic populations of alpha-1 antitrypsin deficiency (AATD) and genetic variation in the Alpha-1 gene has been incompletely studied. Rare gene alterations that predispose to COPD risks of classic AATD in individuals without a classic homozygous deficiency genotype have not been studied and are important in understanding, testing and treating at-risk populations. Investigators hypothesize that SERPINA1 gene sequencing will find important sequence variations in previously assessed MZ individuals who have COPD compared to age, race, sex, AAT level and smoking status matched MZ individuals who do not have COPD.

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Signed informed consent
PiMZ individuals who fall into the lower quartile of AAT levels.

Exclusion criteria

Age <18 years
Known homozygous or compound heterozygous classic severe AATD (e.g. PiSZ, ZZ, Znull)

Treatment and study plan

Genetic Sequencing

Genetic

Sequencing of the SERPINA1 gene

Primary outcomes

Number of Participants With Abnormal Sequences in SERPINA1 Genes

Time frame: End of study NGS Result

Additional SERPINA1 variant of known or possible significance detected by next generation sequencing.

Sponsors and collaborators

Lead sponsor

Medical University of South Carolina

Other

Collaborators

CSL Behring

Registry information

Important dates

Study start: 2015
Primary completion: 2017
Study completion: 2017
First posted: Jun 22, 2016
Registry last updated: Jul 22, 2019

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed