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

NCT ID: NCT00500123

Last Updated: 2025-11-24

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

50000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2001-01-31

Study Completion Date

2050-01-31

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Alpha-1 Antitrypsin Deficiency

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Interventions

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Alpha-1 Antitrypsin Genotype

Home fingerstick testing for alpha-1 antitrypsin genotype

Intervention Type PROCEDURE

Eligibility Criteria

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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.
Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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University of Florida

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Karina Serban, M.D.

Role: PRINCIPAL_INVESTIGATOR

University of Florida

Locations

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University of Florida

Gainesville, Florida, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Michelle Owens, RN, BSN

Role: CONTACT

352-273-6339

Allison Faunce, B.A.

Role: CONTACT

352-273-8666

Facility Contacts

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Michelle Owens, RN, BSN

Role: primary

352-273-6339

Allison Faunce, B.A.

Role: backup

352-273-8666

References

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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.

Reference Type BACKGROUND
PMID: 21299476 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 23547634 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 24106322 (View on PubMed)

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.

Reference Type RESULT
PMID: 15266208 (View on PubMed)

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.

Reference Type RESULT
PMID: 16651497 (View on PubMed)

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.

Reference Type RESULT
PMID: 17291167 (View on PubMed)

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.

Reference Type RESULT
PMID: 21424325 (View on PubMed)

Related Links

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http://www.alphaoneregistry.org

Alpha-1 Coded Testing Link

Other Identifiers

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IRB201903430

Identifier Type: -

Identifier Source: org_study_id

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