Alpha-1 Carrier Genomics Study
| Status: | Completed |
|---|---|
| Conditions: | Chronic Obstructive Pulmonary Disease, Smoking Cessation, Pulmonary |
| Therapuetic Areas: | Pulmonary / Respiratory Diseases |
| Healthy: | No |
| Age Range: | 18 - Any |
| Updated: | 2/1/2018 |
| Start Date: | February 2015 |
| End Date: | April 2017 |
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.
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.
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.
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.
Inclusion Criteria:
1. Signed informed consent
2. PiMZ individuals who fall into the lower quartile of AAT levels.
Exclusion Criteria:
1. Age <18 years
2. Known homozygous or compound heterozygous classic severe AATD (e.g. PiSZ, ZZ, Znull)
We found this trial at
1
site
Charleston, South Carolina 29425
Principal Investigator: Charlie Strange, M.D.
Phone: 843-792-1219
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