Genetic testing for alpha-1 antitrypsin deficiency
The Alpha-1 Foundation's and University of Florida's Alpha-1 Coded Testing (ACT) Study
This study is testing how genetic testing can help people at risk for alpha-1 antitrypsin deficiency understand their health and any related conditions.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 50000 (estimated) |
| Sex | All |
| Sponsor | University of Florida Academic / other |
| Locations | 1 site (Gainesville, Florida) |
| Trial ID | NCT00500123 on ClinicalTrials.gov |
What this trial studies
The Alpha-1 Coded Testing (ACT) Study aims to investigate genetic testing and outcomes for individuals at risk of alpha-1 antitrypsin deficiency. This observational study evaluates demographics, reasons for testing, and health outcomes through a confidential testing program that uses coded procedures to ensure privacy. It also explores co-morbidities associated with the condition beyond lung and liver disease. Participants receive their genetic test results by mail, which helps address concerns about genetic confidentiality.
Who should consider this trial
Good fit: Ideal candidates include individuals of any age who are at risk for alpha-1 antitrypsin deficiency due to symptoms or family history.
Not a fit: Patients who have already undergone genotype and AAT level testing with a qualified result will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to earlier diagnosis and better management of alpha-1 antitrypsin deficiency.
How similar studies have performed: Other studies have shown success in genetic testing approaches for similar conditions, indicating a promising avenue for this research.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Individuals of any age at risk for alpha-1 antitrypsin deficiency on the basis of symptoms or family genetic risk. Exclusion Criteria: * Any person who has already had genotype and AAT level testing completed and has a qualified result.
Where this trial is running
Gainesville, Florida
- University of Florida — Gainesville, Florida, United States (Recruiting)
Study contacts
- Principal investigator: Karina Serban, M.D. — University of Florida
- Study coordinator: Michelle Owens, RN, BSN
- Email: Sandra.Owens@medicine.ufl.edu
- Phone: 352-273-6339
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.