July 2024 Donation Update:
1.4 Million of 5 Million Raised
We are pleased to announce a major advancement in the gene therapy research project for PKAN. Due to a generous donation of $1.2 million from a private PKAN family, the gene therapy project is moving forward as needed. This substantial contribution will ensure the gene therapy project will be fully funded through the Phase III toxicology studies, marking a critical milestone in our mission to develop a life-saving gene therapy for PKAN. We extend our deepest gratitude to this family for their remarkable support and investment in the OHSU and UMass Chan team on this exciting journey towards a breakthrough in PKAN research.
Implications for the PKAN Community
Given current timelines, clinical trials with gene therapy for our children may be ready to start in 2026. As a reminder, given the single location and precise known mutation of PKAN, it is ideally suited for gene therapy, making this research exceptionally promising.
Call to Action
In total, just over $1.4 million has been raised for this project. To ensure the successful development and delivery of this vital treatment, we must continue to secure additional funding. We appeal to friends, family, and all willing supporters to help us achieve our financial goals. Each donation brings us one step closer to halting the progression of PKAN and preventing this disease in future generations.
Together, we can make a significant impact and offer hope to those affected by PKAN. Thank you for your unwavering support.
October 2024 Gene Therapy Update
What we are doing to help:
The Loving Loic Foundation has established the Loving Loic PKAN Gene Therapy Research Fund to develop a gene therapy treatment for PKAN.
The Loving Loic Foundation supports a partnership between PKAN physician-scientists at Oregon Health & Science University and scientists from the Horae Gene Therapy Center at UMass Chan Medical School. These experts from OHSU and UMass bring complementary skill sets, decades of experience, and a collaborative approach to the partnership, positioning them to successfully develop gene therapy for PKAN.
Dr. Miguel Sena-Esteves received his PhD in biomedical sciences from the University of Porto, Portugal, where he started his work in gene therapy. As a member of the Horae Gene Therapy Center, his lab has developed adenoassociated virus (AAV)-based gene therapies for several rare neurologic diseases in children and adults. Dr. Sena-Esteves and his team work to optimize gene delivery and incorporation into the central nervous system, the area to be targeted in PKAN. He has also established the Translational Institute for Molecular Therapeutics (TiMT) at UMass Chan and serves as its director.
Dr. Heather Gray-Edwards is a Doctor of Veterinary Medicine with a PhD in biomedical sciences. She is the Director of the Umass Chan Transgenic Core, the Large Animal Program at UMass Chan and the Associate Director of the TiMT. Her lab in the Horae Gene Therapy Center uses animal models to enhance understanding of disease progression and develop and test novel therapeutics, including new AAV vectors and delivery routes.
Dr. Susan Hayflick, a medical geneticist, has dedicated much of her career to PKAN. Her accomplishments include identifying the causative gene in 2001, developing a PKAN mouse model, creating a potential therapeutic for PKAN, and overseeing early gene therapy experiments in her lab using PKAN mice
Dr. Penny Hogarth, a movement disorders neurologist and clinical trial expert, has developed deep experience in the management of PKAN patients. In partnership with Dr. Hayflick & other collaborators, she designed a potential therapeutic for PKAN and was awarded a large NIH grant to support the related clinical trial, for which she is the principal investigator.
Dr. Sena-Esteves, Dr. Gray-Edwards, and the Horae Gene Therapy Center have built critical infrastructure to support a gene therapy pipeline. Their expertise in bringing gene therapies from bench to bedside, including experience working closely with the FDA, makes them an ideal partner.
Dr. Hayflick, Dr. Hogarth, and their team at OHSU have laid the foundation for the development of gene therapy using PKAN mice, and their team will provide key experience as PKAN clinicians and clinical trialists when gene therapy is moved into humans for the first time.
We need help to raise $5,000,000
The Loving Loic Foundation has started the initial donation of $75,000 (money raised over the past couple of months through this website), and we are seeking a total investment over 3-5 years of $5 million. The project will develop and advance a gene therapy treatment from design to human clinical trials in just 2-3 years. Below is an estimated project and development timeline.