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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.
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.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Alpha-1 Antitrypsin Genotype | Procedure | Home fingerstick testing for alpha-1 antitrypsin genotype |
| Measure | Description | Time Frame |
|---|---|---|
| Structured 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. | Before and after alpha-1 antitrypsin testing |
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Inclusion Criteria:
Exclusion Criteria:
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Individuals choosing to test at home for alpha-1 antitrypsin deficiency.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Michelle Owens, RN, BSN | Contact | 352-273-6339 | Sandra.Owens@medicine.ufl.edu | |
| Allison Faunce, B.A. | Contact | 352-273-8666 | Allison.Faunce@medicine.ufl.edu |
| Name | Affiliation | Role |
|---|---|---|
| Karina Serban, M.D. | University of Florida | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Florida | Recruiting | Gainesville | Florida | 32610 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 21299476 | Background | Coors ME, Moseley R, McGorray S. Informed consent process in Alpha-1 testing of at-risk children: views of parents and adults tested as children. COPD. 2011 Feb;8(1):30-8. doi: 10.3109/15412555.2010.541958. | |
| 23547634 | Background | Holm KE, Borson S, Sandhaus RA, Ford DW, Strange C, Bowler RP, Make BJ, Wamboldt FS. Differences in adjustment between individuals with alpha-1 antitrypsin deficiency (AATD)-associated COPD and non-AATD COPD. COPD. 2013 Apr;10(2):226-34. doi: 10.3109/15412555.2012.719049. |
| Label | URL |
|---|---|
| Alpha-1 Coded Testing Link | View source |
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| ID | Term |
|---|---|
| D019896 | alpha 1-Antitrypsin Deficiency |
| ID | Term |
|---|---|
| D008107 | Liver Diseases |
| D004066 | Digestive System Diseases |
| D008171 | Lung Diseases |
| D012140 | Respiratory Tract Diseases |
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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.
| 24106322 | Background | Stoller JK, Strange C, Schwarz L, Kallstrom TJ, Chatburn RL. Detection of alpha-1 antitrypsin deficiency by respiratory therapists: experience with an educational program. Respir Care. 2014 May;59(5):667-72. doi: 10.4187/respcare.02817. Epub 2013 Oct 8. |
| 15266208 | Result | Strange C, Dickson R, Carter C, Carpenter MJ, Holladay B, Lundquist R, Brantly ML. Genetic testing for alpha1-antitrypsin deficiency. Genet Med. 2004 Jul-Aug;6(4):204-10. doi: 10.1097/01.gim.0000132669.09819.79. |
| 16651497 | Result | Strange C, Moseley MA, Jones Y, Schwarz L, Xie L, Brantly ML. Genetic testing of minors for alpha1-antitrypsin deficiency. Arch Pediatr Adolesc Med. 2006 May;160(5):531-4. doi: 10.1001/archpedi.160.5.531. |
| 17291167 | Result | Carpenter MJ, Strange C, Jones Y, Dickson MR, Carter C, Moseley MA, Gilbert GE. Does genetic testing result in behavioral health change? Changes in smoking behavior following testing for alpha-1 antitrypsin deficiency. Ann Behav Med. 2007 Feb;33(1):22-8. doi: 10.1207/s15324796abm3301_3. |
| 21424325 | Result | McGee D, Strange C, McClure R, Schwarz L, Erven M. The Alpha-1 Association Genetic Counseling Program: an innovative approach to service. J Genet Couns. 2011 Aug;20(4):330-6. doi: 10.1007/s10897-011-9355-z. Epub 2011 Mar 19. |
| D030342 |
| Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D013352 | Subcutaneous Emphysema |
| D004646 | Emphysema |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |