Advancing PKAN Gene Therapy: A Collaborative Effort
March 2024
By Amber Denton
Pantothenate Kinase - Associated Neurodegeneration (PKAN) gene therapy continues to move forward due to dedication from veteran researchers and newly found partnerships.
In 2019, a significant stride in PKAN research was made when the NBIA Disorders Association, in collaboration with sister NBIA organizations AISNAF (Italy) and Hoffnungsbaum e.V. (Germany), provided initial funding to Dr. Lauriel Earley at the University of North Carolina – Chapel Hill to initiate gene therapy research. However, scientific endeavors are often subject to unexpected shifts.
Earley's decision to discontinue her PKAN work necessitated a seamless transition to Dr. Susan Hayflick at Oregon Health & Science University (OHSU). In 2019, Hayflick committed to taking the reins, bringing with her a wealth of experience and a deep commitment to advancing PKAN research. Dr. Suh Young Jeong, Hayflick’s scientific team leader since 2014, was able to carry the project to completion with very promising results.
The project's changing of hands has continued to breathe life into PKAN gene therapy.
Recently, Hayflick was contacted by the Loving Loic Foundation, a nonprofit started by Sherine and Mark Blackford in honor of their son, Loic, who has PKAN. The Blackfords were personally interested in the advancement of gene therapy and offered their support.
The Loving Loic Foundation facilitated an introduction to Dr. Miguel Sena-Esteves and Dr. Heather Gray-Edwards at the Horae Gene Therapy Center at UMass Chan Medical School (UMass.) Sena-Esteves, an expert in developing adeno-associated virus (AAV)-based gene therapies, and Gray-Edwards, an expert in utilizing animal models to enhance understanding of disease progression, agreed to partner with Hayflick’s team. Additionally, Dr. Penelope Hogarth from OHSU joined the team, bringing years of PKAN experience and expertise in clinical trial design. The clinical trial team also includes Allison Gregory, genetic counselor, Dr. Jenny Wilson, child neurologist, and Alison Freed, clinical research coordinator.
Recent progress reports show that the team is redesigning the gene therapy drug to optimize its therapeutic effects. Using the PKAN mouse colony that the OHSU team developed over the past two decades, they will test several redesigned products to determine which performs best. This elaborate process is expected to require at least two years to complete, depending on U.S. Food and Drug Administration (FDA) input. While these critical experiments are underway, they will also be hard at work designing and preparing for the clinical trial. It is imperative that regular meetings with the FDA are held at every step of the process. FDA feedback and suggestions may impact the timeline of progress. Currently, the team is unsure when a clinical trial for PKAN gene therapy will begin, but they also feel the urgency like those in the PKAN family community do.
As the researchers are making great strides in the laboratory, the Loving Loic Foundation continues to play a pivotal role in supporting this collaborative endeavor, providing crucial financial backing and advocacy efforts, recently receiving a $21,000 grant to bring the total amount raised to $182,036 (including in-kind donations) towards the $5 million project goal. If you are interested in learning more, fundraising or contributing to this cause, please visit lovingloic.org or contact Sherine Blackford at info@lovingloic.org.
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