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

This study is currently recruiting participants.
Verified March 2016 by Charlie Strange, Medical University of South Carolina
ClinicalTrials.gov Identifier:
First Posted: July 12, 2007
Last Update Posted: March 16, 2016
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.
University of Florida
Information provided by (Responsible Party):
Charlie Strange, Medical University of South Carolina
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 Charlie Strange, 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 ]
    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.

Information from the National Library of Medicine

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, Learn About Clinical Studies.

Ages Eligible for Study:   Child, Adult, Senior
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.
  Contacts and Locations
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 ClinicalTrials.gov identifier (NCT number): NCT00500123

Contact: Charlie Strange, M.D. 843-792-0260 alphaone@musc.edu
Contact: Charlie Strange, MD 843-792-3174 strangec@musc.edu

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:
Strange C, Dickson R, Carter C, Carpenter MJ, Holladay B, Lundquist R, Brantly ML. Genetic testing for alpha1-antitrypsin deficiency. Genet Med. 2004 Jul-Aug;6(4):204-10.
Strange C, Moseley MA, Jones Y, Schwarz L, Xie L, Brantly ML. Genetic testing of minors for alpha1-antitrypsin deficiency. Arch Pediatr Adolesc Med. 2006 May;160(5):531-4.
Carpenter MJ, Strange C, Jones Y, Dickson MR, Carter C, Moseley MA, Gilbert GE. Does genetic testing result in behavioral health change? Changes in smoking behavior following testing for alpha-1 antitrypsin deficiency. Ann Behav Med. 2007 Feb;33(1):22-8.
McGee D, Strange C, McClure R, Schwarz L, Erven M. The Alpha-1 Association Genetic Counseling Program: an innovative approach to service. J Genet Couns. 2011 Aug;20(4):330-6. doi: 10.1007/s10897-011-9355-z. Epub 2011 Mar 19.
Coors ME, Moseley R, McGorray S. Informed consent process in Alpha-1 testing of at-risk children: views of parents and adults tested as children. COPD. 2011 Feb;8(1):30-8. doi: 10.3109/15412555.2010.541958.
Holm KE, Borson S, Sandhaus RA, Ford DW, Strange C, Bowler RP, Make BJ, Wamboldt FS. Differences in adjustment between individuals with alpha-1 antitrypsin deficiency (AATD)-associated COPD and non-AATD COPD. COPD. 2013 Apr;10(2):226-34. doi: 10.3109/15412555.2012.719049.
Stoller JK, Strange C, Schwarz L, Kallstrom TJ, Chatburn RL. Detection of alpha-1 antitrypsin deficiency by respiratory therapists: experience with an educational program. Respir Care. 2014 May;59(5):667-72. doi: 10.4187/respcare.02817. Epub 2013 Oct 8.

Responsible Party: Charlie Strange, Professor of Pulmonary and Critical Care Medicine, Medical University of South Carolina
ClinicalTrials.gov Identifier: NCT00500123     History of Changes
Other Study ID Numbers: HR 9556
First Submitted: July 11, 2007
First Posted: July 12, 2007
Last Update Posted: March 16, 2016
Last Verified: March 2016
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

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