The Alpha-1 Foundation's and University of Florida's Alpha-1 Coded Testing (ACT) Study

Alpha-1 Antitrypsin Deficiency Clinical Trial

— ACT  

Official title:

The Alpha-1 Foundation's and University of Florida's Alpha-1 Coded Testing (ACT) Study

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT00500123
• Other study ID #: HR 9556
• Status: Recruiting
• Start date: January 2001
• Est. completion date: January 2050

Study information

• Verified date: August 2023
• Source: University of Florida
• Contact: Jesse West, RN, CCRC
• Phone: 352-273-8666
• Email: jesse.west[@]medicine.ufl.edu
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 50000
• Est. completion date: January 2050
• Est. primary completion date: January 2050
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• Alpha 1-Antitrypsin Deficiency
• Alpha-1 Antitrypsin Deficiency

Intervention

Procedure:
• Alpha-1 Antitrypsin Genotype
Home fingerstick testing for alpha-1 antitrypsin genotype

Locations

Country	Name	City	State
United States	University of Florida	Gainesville	Florida

Sponsors (1)

Lead Sponsor	Collaborator
University of Florida

Country where clinical trial is conducted

United States, 

References & Publications (7)

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. — View 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. — View 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. — View 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. — View 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. — View 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. — View 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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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