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Gene Therapy: Knowledge, Attitudes, and Preferences Among Individuals with Alpha-1 Antitrypsin Deficiency
Matthew M Stern1, Kimberly E Foil1, Charlie Strange2,3
1College of Health Professions, Medical University of South Carolina, Charleston, South Carolina, United States.
Chronic Obstructive Pulmonary Diseases (Miami, Fla.)
|June 1, 2026
Summary
Gene therapy for alpha-1 antitrypsin deficiency (AATD) shows promise. Increased patient knowledge correlates with more positive attitudes towards gene therapy, potentially improving clinical trial participation and treatment adoption.
Area of Science:
- Medical Genetics
- Pulmonology
- Gastroenterology
Background:
- Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder.
- Gene therapy presents a novel therapeutic avenue for AATD.
- Understanding patient perspectives is crucial for advancing AATD gene therapies.
Purpose of the Study:
- To evaluate the knowledge, attitudes, and preferences of the AATD patient community concerning gene therapies.
- To identify potential barriers and facilitators for gene therapy clinical trial enrollment and adoption.
Main Methods:
- An electronic survey was administered to 1,112 participants within the AlphaNet population.
- The survey assessed demographic and health characteristics, alongside knowledge, attitudes, and preferences regarding AATD gene therapy.
- Utilized multiple-choice, Likert-scale, and open-ended questions to gather comprehensive data.
Main Results:
- Participant knowledge levels varied, with a mean score of 5.8 out of 12.
- Higher knowledge scores were significantly associated with more positive attitudes towards gene therapy research, clinical trial participation, and treatment acceptance (p<0.001).
- Patients expressed a preference for gene therapies targeting both liver and lung manifestations and requiring less frequent administration.
Conclusions:
- This study highlights knowledge gaps and misconceptions about gene therapy within the AATD community.
- Educational initiatives are essential to improve understanding and foster positive attitudes, thereby facilitating gene therapy clinical trial enrollment and uptake.
- Addressing patient preferences for treatment characteristics is key for successful gene therapy implementation.
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