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NCT Number: NCT00500123

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

Recruiting

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Key information

Conditions

Alpha-1 Antitrypsin Deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities Digestive System Diseases Emphysema Genetic Diseases, Inborn Liver Diseases Lung Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms Respiratory Tract Diseases Subcutaneous Emphysema alpha 1-Antitrypsin Deficiency

Sex eligibility

All sexes

Study type

Observational

Primary location

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Alpha-1 Antitrypsin Genotype

Procedure

Home fingerstick testing for alpha-1 antitrypsin genotype

Primary outcomes

  1. 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.

Study contacts

Contact information is provided by the study sponsor or research team.

Allison Faunce, B.A.

CONTACT

[email protected]

352-273-8666

Michelle Owens, RN, BSN

CONTACT

[email protected]

352-273-6339

Sponsors and collaborators

Lead sponsor

University of Florida

Other

Registry information

Acronym: ACT

Important dates

Study start
2001
Primary completion
2050
Study completion
2050
First posted
Jul 12, 2007
Registry last updated
Nov 24, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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