The ACT Study for Alpha-1 Antitrypsin Deficiency

This observational study, called the Alpha-1 Coded Testing (ACT) Study, is looking at genetic testing for Alpha-1 Antitrypsin Deficiency (AATD). AATD is a genetic condition that can lead to lung and liver disease. The study uses a home fingerstick test to check your Alpha-1 Antitrypsin Genotype (your genetic makeup for AATD). Researchers want to understand why people get tested, what they think about the risks and benefits of testing, and how AATD affects other health conditions. You can join if you are at risk for AATD due to symptoms or family history, and haven't already had AATD genotype and level testing. The study aims to enroll 50,000 participants. The current status of the study is unclear.

Study design
This is an observational study with a planned enrollment of 50,000 participants. It uses a coded testing procedure to return results confidentially.
What's involved
Participants will complete a home fingerstick test for Alpha-1 Antitrypsin Genotype and answer a structured questionnaire before and after testing.
Compensation
Not stated in the trial record.
Follow-up
The primary endpoint, questionnaire responses, is measured before and after testing.

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NCT00500123

The Alpha-1 Foundation's and University of Florida's Alpha-1 Coded Testing (ACT) Study

Recruiting
Not specifiedAll AgesObservational
University of Florida
~50,000 participants
Updated 2025-11-24 on ClinicalTrials.gov
What's tested:Alpha-1 Antitrypsin Genotype

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Structured questionnaire responses on the risks and benefits of testing.
Measured over Before and after alpha-1 antitrypsin testing
Alpha-1 Antitrypsin Deficiency
1 sites across 1 states
Florida1
  • Karina Serban, M.D. · PRINCIPAL_INVESTIGATOR · University of Florida

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

Individuals of any age at risk for alpha-1 antitrypsin deficiency on the basis of symptoms or family genetic risk.

Exclusion

Any person who has already had genotype and AAT level testing completed and has a qualified result.
  • Structured questionnaire responses on the risks and benefits of testing.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.