Brief Title
Alpha-1 Coded Testing(ACT) Study
Official Title
Alpha-1 Coded Testing(ACT) Study
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.
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]
Primary Outcome
Structured questionnaire responses on the risks and benefits of testing.
Condition
Alpha-1 Antitrypsin Deficiency
Intervention
Alpha-1 Antitrypsin Genotype
Publications
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
Recruitment Information
Recruitment Status
Procedure
Estimated Enrollment
50000
Start Date
January 2001
Completion Date
January 2050
Primary Completion Date
January 2050
Eligibility Criteria
Inclusion Criteria:
- Individuals of any age at risk for alpha-1 antitrypsin deficiency on the basis of
symptoms or family genetic risk.
Gender
All
Ages
N/A - N/A
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Contacts
Charlie Strange, M.D., ,
Location Countries
United States
Location Countries
United States
Administrative Informations
NCT ID
NCT00500123
Organization ID
HR 9556
Responsible Party
Principal Investigator
Study Sponsor
Medical University of South Carolina
Collaborators
University of Florida
Study Sponsor
Charlie Strange, M.D., Principal Investigator, Medical University of South Carolina
Verification Date
January 2020