Alpha-1 Coded Testing(ACT) Study
The Alpha-1 Coded Testing (ACT) Study was established to study genetic testing and outcomes of individuals at risk for alpha-1 antitrypsin deficiency.
|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|
- 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.
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.
|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)|
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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT00500123
|Contact: Charlie Strange, M.D.||firstname.lastname@example.org|
|Contact: Charlie Strange, MDemail@example.com|
|United States, South Carolina|
|Medical University of South Carolina. Division of Pulmonary and Critical Care Medicine||Recruiting|
|Charleston, South Carolina, United States, 29425|
|Principal Investigator:||Charlie Strange, M.D.||Medical University of South Carolina|