Kimberly E. Foil, MS; Matthew M. Stern, PhD, MS; Charlie Strange, MD; Kristen E. Holm, PhD, MPH; Robert A. Sandhaus, MD, PhD; Gwen Hayden, BS; Megan Lyle, BS, BSVS, OD; Sarah N. Miller, RN, PhD
This study was the first to explore knowledge, attitudes, and preferences about gene therapy among people with alpha-1 antitrypsin deficiency (AATD), an inherited condition that carries an increased risk of lung and liver disease. Gene therapy is a means of treating or preventing a disease by correcting the underlying genetic problem—it works by replacing, repairing, or turning off faulty genes inside the body's cells. Understanding the patient perspective or view is important to ensure that therapies are acceptable to the people who may use them.
Participants were recruited through AlphaNet, a disease management organization. Over a thousand people completed our survey and knowledge test. Participants’ knowledge about AATD-specific genetics was high, moderate regarding clinical trials, and low regarding genes, gene expression, and genetic therapies. Opinions of gene therapy were overall favorable, and participants with higher knowledge scores reported more support of gene therapy and a higher interest in participating in a gene therapy clinical trial. Participants preferred gene therapies capable of targeting both liver and lung disease and therapies with less frequent re-dosing. Participants expressed desire for additional education and high levels of trust in the Alpha-1 Foundation, AlphaNet, and their AATD-specific healthcare providers.
These results illustrate the importance of gene therapy education, which would ultimately benefit clinical trial enrollment and ensure that education, therapies, trials, and care match patient preferences, needs, and expectations.