Genetic testing for alpha-1 antitrypsin deficiency

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

The Alpha-1 Coded Testing (ACT) Study aims to investigate genetic testing and outcomes for individuals at risk of alpha-1 antitrypsin deficiency. This observational study evaluates demographics, reasons for testing, and health outcomes through a confidential testing program that uses coded procedures to ensure privacy. It also explores co-morbidities associated with the condition beyond lung and liver disease. Participants receive their genetic test results by mail, which helps address concerns about genetic confidentiality.

Why it matters

Who can join: the full rules

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.

Where it's running

• University of Florida
  Gainesville, Florida, United States Recruiting

Study contacts

• Principal investigator: Karina Serban, M.D. — University of Florida
• Study coordinator: Michelle Owens, RN, BSN
• Email: Sandra.Owens@medicine.ufl.edu
• Phone: 352-273-6339

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Prediction score for death or lung transplant in emphysema caused by alpha-1 antitrypsin deficiency

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• Two weekly doses of Alpha1-Proteinase Inhibitor by injection compared with standard IV dose in alpha-1 antitrypsin deficiency

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• AIR-001 treatment in adults with alpha-1 antitrypsin deficiency

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• Gene therapy using AAV8 to replace defective alpha-1 antitrypsin

  This trial will try a one-time IV gene therapy (AAV8hAAT(AVL)) to produce an oxidation-resistant AAT protein in adults with ZZ or Z/null alpha-1 antitrypsin deficiency who have emphysema.

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• PiMZ Longitudinal Cohort: tracking lung changes in PiMZ Alpha-1 patients

  This project will test whether CT lung density and blood or sputum biomarkers can predict worsening emphysema over three years in adults with PiMZ alpha-1 antitrypsin deficiency and COPD.

  Recruiting Columbia University · Birmingham, Alabama and 4 other locations · NCT06505603

• Assessing a new treatment for Alpha-1 Antitrypsin Deficiency

  This study is testing a new treatment called WVE-006 to see if it is safe and effective for people with Alpha-1 Antitrypsin Deficiency who have mild to moderate lung or liver issues.

  Recruiting Phase 1/2 Wave Life Sciences USA, Inc. · Fitzroy, Victoria and 8 other locations · NCT06405633

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.