Alpha-1 Coded Testing(ACT) Study (ACT)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT00500123
Recruitment Status : Recruiting
First Posted : July 12, 2007
Last Update Posted : January 28, 2019
University of Florida
Information provided by (Responsible Party):
Charlie Strange, Medical University of South Carolina

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.

Condition or disease Intervention/treatment
Alpha-1 Antitrypsin Deficiency Procedure: 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.

Study Type : Observational [Patient Registry]
Estimated Enrollment : 50000 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 50 Years
Official Title: Alpha-1 Coded Testing(ACT) Study
Study Start Date : January 2001
Estimated Primary Completion Date : January 2050
Estimated Study Completion Date : January 2050

Intervention Details:
  • Procedure: Alpha-1 Antitrypsin Genotype
    Home fingerstick testing for alpha-1 antitrypsin genotype

Primary Outcome Measures :
  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.

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.

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): 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

Additional Information:
Publications of Results:
Other Publications:
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
First Posted: July 12, 2007    Key Record Dates
Last Update Posted: January 28, 2019
Last Verified: January 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Data sharing is encouraged by MUSC coordinator contact

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

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