Alpha-1 Coded Testing(ACT) Study

This study is currently recruiting participants.
Verified December 2012 by Medical University of South Carolina
Sponsor:
Collaborator:
University of Florida
Information provided by (Responsible Party):
Charlie Strange, Medical University of South Carolina
ClinicalTrials.gov Identifier:
NCT00500123
First received: July 11, 2007
Last updated: December 21, 2012
Last verified: December 2012
  Purpose

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.


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.

  Eligibility

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.

Criteria

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
Please refer to this study by its ClinicalTrials.gov identifier: NCT00500123

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

Locations
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
Investigators
Principal Investigator: Charlie Strange, M.D. Medical University of South Carolina
  More Information

Additional Information:
Publications:
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
Study First Received: July 11, 2007
Last Updated: December 21, 2012
Health Authority: United States: Institutional Review Board

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

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

ClinicalTrials.gov processed this record on April 15, 2014