Alpha-1 Coded Testing(ACT) Study

This study is currently recruiting participants. (see Contacts and Locations)
Verified August 2015 by Medical University of South Carolina
University of Florida
Information provided by (Responsible Party):
Charlie Strange, Medical University of South Carolina Identifier:
First received: July 11, 2007
Last updated: August 24, 2015
Last verified: August 2015

The Alpha-1 Coded Testing (ACT) Study was established to study genetic testing and outcomes of individuals at risk for alpha-1 antitrypsin deficiency.

Condition Intervention
Alpha-1 Antitrypsin Deficiency
Procedure: Alpha-1 Antitrypsin Genotype

Study Type: Observational [Patient Registry]
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 50 Years
Official Title: Alpha-1 Coded Testing(ACT) Study

Resource links provided by NLM:

Further study details as provided by Medical University of South Carolina:

Primary Outcome Measures:
  • Structured questionnaire responses on the risks and benefits of testing. [ Time Frame: Before and after alpha-1 antitrypsin testing ] [ Designated as safety issue: No ]
    Rotating questionnaires assess the clinical course and co-morbidities associated with different genotypes of alpha-1 antitrypsin deficiency.

Biospecimen Retention:   Samples With DNA

A blood card is mailed to the participants home. The provide lancet is used for fingerstick collection of sufficient bloodspots to genotype for alpha-1 antitrypsin (AAT) deficiency alleles and to estimate an AAT level.

Estimated Enrollment: 50000
Study Start Date: January 2001
Estimated Study Completion Date: January 2050
Estimated Primary Completion Date: January 2050 (Final data collection date for primary outcome measure)
Intervention Details:
    Procedure: Alpha-1 Antitrypsin Genotype
    Home fingerstick testing for alpha-1 antitrypsin genotype
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.


Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population

Individuals choosing to test at home for alpha-1 antitrypsin deficiency.


Inclusion Criteria:

  • Individuals of any age at risk for alpha-1 antitrypsin deficiency on the basis of symptoms or family genetic risk.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00500123

Contact: Charlie Strange, M.D. 843-792-0260
Contact: Charlie Strange, MD 843-792-3174

United States, South Carolina
Medical University of South Carolina. Division of Pulmonary and Critical Care Medicine Recruiting
Charleston, South Carolina, United States, 29425
Sponsors and Collaborators
Medical University of South Carolina
University of Florida
Principal Investigator: Charlie Strange, M.D. Medical University of South Carolina
  More Information

Additional Information:

Responsible Party: Charlie Strange, Professor of Pulmonary and Critical Care Medicine, Medical University of South Carolina Identifier: NCT00500123     History of Changes
Other Study ID Numbers: HR 9556
Study First Received: July 11, 2007
Last Updated: August 24, 2015
Health Authority: United States: Institutional Review Board

Keywords provided by Medical University of South Carolina:
genetic testing
alpha-1 antitrypsin deficiency

Additional relevant MeSH terms:
Alpha 1-Antitrypsin Deficiency
Digestive System Diseases
Genetic Diseases, Inborn
Liver Diseases
Lung Diseases
Pathologic Processes
Respiratory Tract Diseases
Subcutaneous Emphysema
Alpha 1-Antitrypsin
Protein C Inhibitor
Enzyme Inhibitors
Molecular Mechanisms of Pharmacological Action
Pharmacologic Actions
Protease Inhibitors
Serine Proteinase Inhibitors
Trypsin Inhibitors processed this record on October 13, 2015