The Alpha-1 Coded Testing (ACT) Study was established to study genetic testing and outcomes of individuals at risk for alpha-1 antitrypsin deficiency.
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
Enrollment
50,000
Home fingerstick testing for alpha-1 antitrypsin genotype
University of Florida
Gainesville, Florida, United States
RECRUITINGStructured questionnaire responses on the risks and benefits of testing.
Rotating questionnaires assess the clinical course and co-morbidities associated with different genotypes of alpha-1 antitrypsin deficiency.
Time frame: Before and after alpha-1 antitrypsin testing
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