Clinical trial NCT00500123: The Alpha-1 Foundation's and University of Florida's Alpha-1 Coded Testing (ACT) Study
Official title: The Alpha-1 Foundation's and University of Florida's Alpha-1 Coded Testing (ACT) Study
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Alpha-1 Antitrypsin Deficiency
Keywords: alpha-1
antitrypsin
AAT
genetic testing
alpha-1 antitrypsin deficiency
AATD
Lead sponsor: University of Florida
Sponsor class: OTHER
First posted: 2007-07-12
Enrollment: 50000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Individuals choosing to test at home for alpha-1 antitrypsin deficiency.

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Structured questionnaire responses on the risks and benefits of testing.
timeFrame: Before and after alpha-1 antitrypsin testing
Secondary outcomes:
Other outcomes:
Locations:
city: Gainesville
country: United States
facility: University of Florida
state: Florida
Study officials:
affiliation: University of Florida
name: Karina Serban, M.D.
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.
citation: 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.
citation: 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.
citation: 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.
citation: 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.
citation: 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.
citation: 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.