The PKAN physician-scientists at OHSU and scientists from the Horae Gene Therapy Center at UMass Chan Medical school have formed a partnership to develop gene therapy for PKAN. Early work in PKAN mice was initially done by Dr. Lauriel Earley, a former graduate student in Molecular & Medical Genetics at OHSU. Dr. Earley’s work was completed in the Hayflick lab after she departed to start a new position in industry. Now, using the preliminary mouse studies as a launching pad, OHSU and UMass are working to move the project forward. These experts from OHSU and UMass bring complementary skill sets, decades of experience, and a collaborative approach to the partnership. Meanwhile, the Loving Loic Foundation is working tirelessly to raise the necessary funds for the project. The Loving Loic Foundation was established in late 2023 by the Blackford family in honor of their son, Loic, who has been diagnosed with PKAN. Their mission is to fund research for developing a lifetime cure for PKAN for all children through the development of an effective gene therapy. The Loving Loic Foundation works closely with the NBIA Disorders Association and other advocacy groups. Donations to support this project can also be made to a dedicated PKAN Gene Therapy Research Fund through the OHSU Foundation.

Update 3/18/26

Since starting the project, our lab has completed numerous short and long-term studies in our PKAN mice and healthy control mice. These were initially aimed at proof-of-concept, meaning using the PKAN mice to show that the gene therapy can be successfully incorporated in their brains and they start making the PANK2 protein that is missing. Next steps included refining the gene therapy “vector,” which is the tool we use to get the therapy into the brain cells, and having an early-stage consultative meeting with the FDA called an INTERACT meeting. Finally, durability studies are now in their last stages in the mice. A durability study is done to show how long the effect of the gene therapy lasts. We want to show that after up to a year, the therapy is still working robustly.

In September, we met a major milestone by submitting a ‘pre-IND’ application to the FDA. IND stands for investigational new drug. The application was over 100 pages in length and described the results of several years of experiments in the lab, what we have learned from our natural history study of PKAN (PKANready), and included a summary protocol for the future clinical trial. This was a chance for us to ask the FDA for feedback regarding our next steps, and we received useful information to inform future directions. Our partners at UMass Gene Therapy Center are currently busy producing a new batch of the gene therapy for us. This batch will meet more rigorous standards so that it can be used in additional animal studies and a clinical trial in people. While that is ongoing, we have been working out the details of required animal toxicology studies that will come next at OHSU.

While the toxicology studies get underway in the lab, those of us on the clinical side will continue to work on the design of the clinical trial. We are currently piloting some new tools in a small number of individuals with PKAN to see how we like them. We are also working with statisticians to analyze data from PKANready using some newer methods that may be useful for the gene therapy trial. Future goals include submitting applications to obtain Orphan Drug Designation and Pediatric Rare Disease Designation and ultimately submitting the complete IND application to the FDA, which will be their first opportunity to approve a PKAN gene therapy clinical trial.