Alpha-1 Coded Testing(ACT) Study

• Sponsor: University of Florida (Other)
• Overall Status: Recruiting
• CT.gov ID: NCT00500123
• Collaborator: Medical University of South Carolina (Other)
• Enrollment: 50,000
• Location: 1
• Anticipated Duration (Months): 588
• Patients Per Site Per Month: 85

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Alpha-1 Antitrypsin Deficiency	Procedure: Alpha-1 Antitrypsin Genotype

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.

Study Design

• Study Type: Observational [Patient Registry]
• Anticipated Enrollment: 50000 participants
• Observational Model: Cohort
• Time Perspective: Prospective
• Official Title: Alpha-1 Coded Testing(ACT) Study
• Actual Study Start Date: Jan 1, 2001
• Anticipated Primary Completion Date: Jan 1, 2050
• Anticipated Study Completion Date: Jan 1, 2050

Outcome Measures

Primary Outcome Measures

1. Structured questionnaire responses on the risks and benefits of testing. [Before and after alpha-1 antitrypsin testing]

   Rotating questionnaires assess the clinical course and co-morbidities associated with different genotypes of alpha-1 antitrypsin deficiency.

Eligibility Criteria

Criteria

• Ages Eligible for Study: N/A and Older
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: Yes

Inclusion Criteria:

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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	University of Florida	Gainesville	Florida	United States	32610

Sponsors and Collaborators

• University of Florida
• Medical University of South Carolina

Investigators

• Principal Investigator: Mark Brantly, M.D., University of Florida

Study Documents (Full-Text)

None provided.

More Information

Additional Information:

• Alpha-1 Coded Testing Link

Publications

• 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.
• 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.
• 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.

• Responsible Party: University of Florida
• ClinicalTrials.gov Identifier: NCT00500123
• Other Study ID Numbers: HR 9556
• First Posted: Jul 12, 2007
• Last Update Posted: Feb 15, 2021
• Last Verified: Feb 1, 2021

• Individual Participant Data (IPD) Sharing Statement: Yes
• Plan to Share IPD: Yes
• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No
• Keywords provided by University of Florida: alpha-1; antitrypsin; AAT; genetic testing; alpha-1 antitrypsin deficiency; AATD
• Additional relevant MeSH terms: Alpha 1-Antitrypsin Deficiency; Alpha 1-Antitrypsin; Protein C Inhibitor

Study Results

No Results Posted as of Feb 15, 2021