As many as 3 in 1,000,000 children are born with PKAN each year and will die from it. For us, every young life matters and we are here to reduce that number.
Our Mission
The Loving Loic Foundation is a 501(c)3 nonprofit organization, whose mission is to fund research for developing a lifetime cure for pantothenate kinase-associated neurodegeneration (“PKAN”) for all children through the development of an effective gene therapy treatment in the honor of Loic Blackford, a PKAN warrior.
Meet Loic
What is PKAN?
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic condition that affects 1-3 in 1,000,000 children. The disease disrupts the cellular process of metabolizing the enzyme CoA. PKAN can present in two ways, classic and atypical.
Classic PKAN is characterized by early-childhood onset of progressive dystonia, parkinsonism, and brain iron accumulation with children bound to a wheelchair and placed on a feeding tube at the end of life. It is terminal and children with classic PKAN typically do not survive past age 10.
Atypical PKAN has a later onset, often around adolescence. Atypical PKAN has a more gradual progression and children have longer life expectancies.
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.