Alpha-1 Antitrypsin Deficiency
Conditions
Keywords
alpha-1, antitrypsin, AAT, genetic testing, alpha-1 antitrypsin deficiency, AATD
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.
Interventions
PROCEDUREAlpha-1 Antitrypsin Genotype
Home fingerstick testing for alpha-1 antitrypsin genotype
Sponsors
University of Florida
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
Inclusion criteria
* Individuals of any age at risk for alpha-1 antitrypsin deficiency on the basis of symptoms or family genetic risk.
Exclusion criteria
* Any person who has already had genotype and AAT level testing completed and has a qualified result.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Structured questionnaire responses on the risks and benefits of testing. | 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. |
Countries
United States
Contacts
Primary ContactMichelle Owens, RN, BSN
Backup ContactAllison Faunce, B.A.
Outcome results
None listed