Recruiting

Alpha-1 Testing

Sponsor:

University of Florida

Code:

NCT00500123

Conditions

Alpha-1 Antitrypsin Deficiency

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

Interventions

Alpha-1 Antitrypsin Genotype

Study Details

Brief 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.

Conditions

Alpha-1 Antitrypsin Deficiency

Study ID

NCT00500123

Start date

Jan, 2001

Status verified date

Nov, 2025

Completion date

Jan, 2050

Anticipated

Primary completion date

Jan, 2050

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

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.

Study Design

Enrollment

50000 participants

Anticipated

Interventions and Outcome Measures

Interventions

Alpha-1 Antitrypsin Genotype

Home fingerstick testing for alpha-1 antitrypsin genotype

Primary outcome measure

  • Structured questionnaire responses on the risks and benefits of testing. [ Time Frame: Before and after alpha-1 antitrypsin testing ]

Central Contacts and Locations

Central contacts

Michelle Owens, RN, BSN

352-273-6339Sandra.Owens@medicine.ufl.edu

Allison Faunce, B.A.

352-273-8666Allison.Faunce@medicine.ufl.edu

Locations

University of Florida

Recruiting

Gainesville, Florida, United States, 32610

Contacts

Michelle Owens, RN, BSN

352-273-6339Sandra.Owens@medicine.ufl.edu

Allison Faunce, B.A.

352-273-8666Allison.Faunce@medicine.ufl.edu

Principal Investigator:

Karina Serban, M.D.

More Information

Sponsor

University of Florida

Last update posted

Nov 24, 2025

Last verified

Nov, 2025

Keywords

  • alpha-1
  • antitrypsin
  • AAT
  • genetic testing
  • alpha-1 antitrypsin deficiency
  • AATD

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by University of Florida on 2025-11-24.