Alpha-1 Antitrypsin DeficiencyACTNCT00500123
The Alpha-1 Foundation's and University of Florida's Alpha-1 Coded Testing (ACT) Study
An observational study of Alpha-1 Antitrypsin Deficiency, run by University of Florida at 1 site in United States.
Trial summary
The Alpha-1 Coded Testing (ACT) Study was established to study genetic testing and outcomes of individuals at risk for alpha-1 antitrypsin deficiency. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Alpha-1 Antitrypsin Deficiency
- What is being tested?
- Alpha-1 Antitrypsin Genotype
- Type of treatment
- Surgery or procedure
- How many people
- 50,000 participants
- Where
- 1 siteUnited States
- Study dates
- Jan 2001to Jan 2050
- How long will I take part?
- 50 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Individuals choosing to test at home for alpha-1 antitrypsin deficiency.
Who may be able to join
- Individuals of any age at risk for alpha-1 antitrypsin deficiency on the basis of symptoms or family genetic risk.
Who cannot join
- Any person who has already had genotype and AAT level testing completed and has a qualified result.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
University of Florida
Gainesville, Florida, 32610
Michelle Owens, RN, BSN, 352-273-6339, Sandra.Owens@medicine.ufl.edu
Allison Faunce, B.A., 352-273-8666, Allison.Faunce@medicine.ufl.edu
About this study
The Alpha-1 Coded Testing (ACT) Study was established to study genetic testing and outcomes of individuals at risk for alpha-1 antitrypsin deficiency.
Read the detailed description
Genetic testing for alpha-1 antitrypsin deficiency is sometimes delayed despite established testing indications. All genetic tests have risks and possible benefits. The ACT study evaluates the population demographics, reasons for testing, and outcomes through a confidential testing program. Co-morbidities of alpha-1 antitrypsin deficiency other than lung and liver disease are being investigated. Concerns about genetic confidentiality are lessened in this study by a coded testing procedure that returns results through the mail to study participants.
- Conditions
- Alpha-1 Antitrypsin Deficiency
- Being tested
- Alpha-1 Antitrypsin Genotype
- Keywords
- alpha-1, antitrypsin, AAT, genetic testing, alpha-1 antitrypsin deficiency, AATD
- Medical subject headings
- alpha 1-Antitrypsin Deficiency
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Alpha-1 Antitrypsin GenotypeProcedure or surgery
Home fingerstick testing for alpha-1 antitrypsin genotype
What is being measured
The primary outcome is the main question the study is designed to answer.
Structured questionnaire responses on the risks and benefits of testing.
Rotating questionnaires assess the clinical course and co-morbidities associated with different genotypes of alpha-1 antitrypsin deficiency.
Measured: Before and after alpha-1 antitrypsin testing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Jul 2007 (estimated)
- Study startJan 2001
- Primary completionJan 2050 (estimated)
- Study completionJan 2050 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (7)Papers the sponsor has linked to this study.
- Other trials for Alpha-1 Antitrypsin DeficiencyStudies of the same condition, open and under way.
- More trials run by University of FloridaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 50,000 participants (estimated)
- Target duration
- 50 Years
Sponsor and investigators
- Lead sponsor
- University of Florida
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Karina Serban, M.D., Principal investigator, University of Florida
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00500123
- Sponsor's protocol ID
- IRB201903430
- Acronym
- ACT
- Status last verified
- Nov 2025
- First submitted
- 11 Jul 2007
- Last updated
- 24 Nov 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Coors ME, Moseley R, McGorray S. Informed consent process in Alpha-1 testing of at-risk children: views of parents and adults tested as children. COPD. 2011 Feb;8(1):30-8. doi: 10.3109/15412555.2010.541958.
PubMed 21299476Holm KE, Borson S, Sandhaus RA, Ford DW, Strange C, Bowler RP, Make BJ, Wamboldt FS. Differences in adjustment between individuals with alpha-1 antitrypsin deficiency (AATD)-associated COPD and non-AATD COPD. COPD. 2013 Apr;10(2):226-34. doi: 10.3109/15412555.2012.719049.
PubMed 23547634Stoller JK, Strange C, Schwarz L, Kallstrom TJ, Chatburn RL. Detection of alpha-1 antitrypsin deficiency by respiratory therapists: experience with an educational program. Respir Care. 2014 May;59(5):667-72. doi: 10.4187/respcare.02817. Epub 2013 Oct 8.
PubMed 24106322Strange C, Dickson R, Carter C, Carpenter MJ, Holladay B, Lundquist R, Brantly ML. Genetic testing for alpha1-antitrypsin deficiency. Genet Med. 2004 Jul-Aug;6(4):204-10. doi: 10.1097/01.gim.0000132669.09819.79.
PubMed 15266208Strange C, Moseley MA, Jones Y, Schwarz L, Xie L, Brantly ML. Genetic testing of minors for alpha1-antitrypsin deficiency. Arch Pediatr Adolesc Med. 2006 May;160(5):531-4. doi: 10.1001/archpedi.160.5.531.
PubMed 16651497Carpenter MJ, Strange C, Jones Y, Dickson MR, Carter C, Moseley MA, Gilbert GE. Does genetic testing result in behavioral health change? Changes in smoking behavior following testing for alpha-1 antitrypsin deficiency. Ann Behav Med. 2007 Feb;33(1):22-8. doi: 10.1207/s15324796abm3301_3.
PubMed 17291167McGee D, Strange C, McClure R, Schwarz L, Erven M. The Alpha-1 Association Genetic Counseling Program: an innovative approach to service. J Genet Couns. 2011 Aug;20(4):330-6. doi: 10.1007/s10897-011-9355-z. Epub 2011 Mar 19.
PubMed 21424325
Study at a glance
From the registry record, last updated by the sponsor on 24 Nov 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Alpha-1 Foundation's and University of Florida's Alpha-1 Coded Testing (ACT) Study
- ClinicalTrials.gov ID
- NCT00500123
- Acronym / sponsor ID
- ACT / IRB201903430
- Conditions
- Alpha-1 Antitrypsin Deficiency
- Keywords
- alpha-1, antitrypsin, AAT, genetic testing, alpha-1 antitrypsin deficiency, AATD
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 50,000 participants (estimated)
- Lead sponsor
- University of FloridaUniversity, hospital or other
- Study start
- Jan 2001 (actual)
- Primary completion
- Jan 2050 (estimated)
- Study completion
- Jan 2050 (estimated)
- First posted
- 12 Jul 2007 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The Alpha-1 Coded Testing (ACT) Study was established to study genetic testing and outcomes of individuals at risk for alpha-1 antitrypsin deficiency.
Detailed description
Genetic testing for alpha-1 antitrypsin deficiency is sometimes delayed despite established testing indications. All genetic tests have risks and possible benefits. The ACT study evaluates the population demographics, reasons for testing, and outcomes through a confidential testing program. Co-morbidities of alpha-1 antitrypsin deficiency other than lung and liver disease are being investigated. Concerns about genetic confidentiality are lessened in this study by a coded testing procedure that returns results through the mail to study participants.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 50 Years
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals choosing to test at home for alpha-1 antitrypsin deficiency.
Key inclusion criteria (1 listed)
- Individuals of any age at risk for alpha-1 antitrypsin deficiency on the basis of symptoms or family genetic risk.
Key exclusion criteria (1 listed)
- Any person who has already had genotype and AAT level testing completed and has a qualified result.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Alpha-1 Antitrypsin GenotypeHome fingerstick testing for alpha-1 antitrypsin genotype | Procedure or surgery | – |
Primary outcome
Structured questionnaire responses on the risks and benefits of testing.
Time frame: Before and after alpha-1 antitrypsin testing
Rotating questionnaires assess the clinical course and co-morbidities associated with different genotypes of alpha-1 antitrypsin deficiency.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Nov 2025.
- Background: PubMed 21299476Coors ME, Moseley R, McGorray S. Informed consent process in Alpha-1 testing of at-risk children: views of parents and adults tested as children. COPD. 2011 Feb;8(1):30-8. doi: 10.3109/15412555.2010.541958.
- Background: PubMed 23547634Holm KE, Borson S, Sandhaus RA, Ford DW, Strange C, Bowler RP, Make BJ, Wamboldt FS. Differences in adjustment between individuals with alpha-1 antitrypsin deficiency (AATD)-associated COPD and non-AATD COPD. COPD. 2013 Apr;10(2):226-34. doi: 10.3109/15412555.2012.719049.
- Background: PubMed 24106322Stoller JK, Strange C, Schwarz L, Kallstrom TJ, Chatburn RL. Detection of alpha-1 antitrypsin deficiency by respiratory therapists: experience with an educational program. Respir Care. 2014 May;59(5):667-72. doi: 10.4187/respcare.02817. Epub 2013 Oct 8.
- Results publication: PubMed 15266208Strange C, Dickson R, Carter C, Carpenter MJ, Holladay B, Lundquist R, Brantly ML. Genetic testing for alpha1-antitrypsin deficiency. Genet Med. 2004 Jul-Aug;6(4):204-10. doi: 10.1097/01.gim.0000132669.09819.79.
- Results publication: PubMed 16651497Strange C, Moseley MA, Jones Y, Schwarz L, Xie L, Brantly ML. Genetic testing of minors for alpha1-antitrypsin deficiency. Arch Pediatr Adolesc Med. 2006 May;160(5):531-4. doi: 10.1001/archpedi.160.5.531.
- Results publication: PubMed 17291167Carpenter MJ, Strange C, Jones Y, Dickson MR, Carter C, Moseley MA, Gilbert GE. Does genetic testing result in behavioral health change? Changes in smoking behavior following testing for alpha-1 antitrypsin deficiency. Ann Behav Med. 2007 Feb;33(1):22-8. doi: 10.1207/s15324796abm3301_3.
- Results publication: PubMed 21424325McGee D, Strange C, McClure R, Schwarz L, Erven M. The Alpha-1 Association Genetic Counseling Program: an innovative approach to service. J Genet Couns. 2011 Aug;20(4):330-6. doi: 10.1007/s10897-011-9355-z. Epub 2011 Mar 19.
- Alpha-1 Coded Testing LinkLink provided by the sponsor.
- Individual participant dataSharing planned: No
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Alpha 1 Antitrypsin Deficiency
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Karina Serban, M.D. principal investigator
University of Florida
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Alpha-1 Antitrypsin Deficiency, run by University of Florida at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 24 Nov 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Michelle Owens, RN, BSN (352-273-6339, Sandra.Owens@medicine.ufl.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Structured questionnaire responses on the risks and benefits of testing. (time frame: Before and after alpha-1 antitrypsin testing). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00500123, which also lists 7 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Nov 2025.