NCT00500123

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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
50,000

participants targeted

Target at P75+ for all trials

Timeline
288mo left

Started Jan 2001

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress52%
Jan 2001Jan 2050

Study Start

First participant enrolled

January 1, 2001

Completed
6.5 years until next milestone

First Submitted

Initial submission to the registry

July 11, 2007

Completed
1 day until next milestone

First Posted

Study publicly available on registry

July 12, 2007

Completed
42.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2050

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

January 1, 2050

Last Updated

November 24, 2025

Status Verified

November 1, 2025

Enrollment Period

49 years

First QC Date

July 11, 2007

Last Update Submit

November 21, 2025

Conditions

Alpha-1 Antitrypsin Deficiency

Keywords

alpha-1antitrypsinAATgenetic testingalpha-1 antitrypsin deficiencyAATD

Outcome Measures

Primary Outcomes (1)

  • 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

Interventions

Alpha-1 Antitrypsin GenotypePROCEDURE

Home fingerstick testing for alpha-1 antitrypsin genotype

Eligibility Criteria

Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

Individuals choosing to test at home for alpha-1 antitrypsin deficiency.

You may qualify if:

  • Individuals of any age at risk for alpha-1 antitrypsin deficiency on the basis of symptoms or family genetic risk.

You may not qualify if:

  • Any person who has already had genotype and AAT level testing completed and has a qualified result.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

University of Florida

Gainesville, Florida, 32610, United States

RECRUITING

Related Publications (7)

  • 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.

    PMID: 21299476BACKGROUND

  • 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.

    PMID: 23547634BACKGROUND

  • 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.

    PMID: 24106322BACKGROUND

  • 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.

    PMID: 15266208RESULT

  • 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.

    PMID: 16651497RESULT

  • 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.

    PMID: 17291167RESULT

  • 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.

    PMID: 21424325RESULT

Related Links

Biospecimen

Retention: SAMPLES WITH DNA

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.

MeSH Terms

Conditions

alpha 1-Antitrypsin Deficiency

Condition Hierarchy (Ancestors)

Liver DiseasesDigestive System DiseasesLung DiseasesRespiratory Tract DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesSubcutaneous EmphysemaEmphysemaPathologic ProcessesPathological Conditions, Signs and Symptoms

Study Officials

  • Karina Serban, M.D.

    University of Florida

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Michelle Owens, RN, BSN

CONTACT

352-273-6339Sandra.Owens@medicine.ufl.edu

Allison Faunce, B.A.

CONTACT

352-273-8666Allison.Faunce@medicine.ufl.edu

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Target Duration
50 Years
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

July 11, 2007

First Posted

July 12, 2007

Study Start

January 1, 2001

Primary Completion (Estimated)

January 1, 2050

Study Completion (Estimated)

January 1, 2050

Last Updated

November 24, 2025

Record last verified: 2025-11

Data Sharing

IPD Sharing
Will not share

Locations

US(1)