N/A
N=117
Alpha-1 Carrier Genomics Study
Alpha-1 Antitrypsin Deficiency · Emphysema · COPD · Smoking
Bottom Line
View on ClinicalTrials.gov: NCT02810327 ↗Enrolled (actual)
117
Serious AEs
0.0%
Results posted
Jul 2019
Primary outcome: Primary: Number of Participants With Abnormal Sequences in SERPINA1 Genes — 6; 0 participants — p=0.054
Study Design & Population
- Study type
- Observational
- Phase
- N/A
- Interventions
- Genetic Sequencing (Genetic)
- Age
- Adult, Older Adult · 18+ yrs
- Sex
- All
- Sponsor
- Medical University of South Carolina
- Primary completion
- Apr 2017
Outcome Measures
| Outcome | Result | p-value |
|---|---|---|
| PRIMARY Number of Participants With Abnormal Sequences in SERPINA1 Genes |
6; 0 | 0.054 |
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.
Eligibility Criteria
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)
Data sourced from ClinicalTrials.gov (NCT02810327). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.