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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
Alpha-1 Antitrypsin Deficiency
Procedure: Alpha-1 Antitrypsin Genotype
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.
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.
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, Older Adult
Sexes Eligible for Study:
Accepts Healthy Volunteers:
Individuals choosing to test at home for alpha-1 antitrypsin deficiency.
Individuals of any age at risk for alpha-1 antitrypsin deficiency on the basis of symptoms or family genetic risk.