Newly diagnosed
You are not alone.
We know this may not be a community you ever expected to join, and we are so sorry that PKAN has entered your family’s life.
There is a lot to take in right now. You do not have to understand everything today. There are families here who know what you are going through, and we are here to help you find your way.
If you only read one page today, let it be this one.
What is PKAN?
PKAN (Pantothenate Kinase-Associated Neurodegeneration) is a rare genetic neurological disorder caused by changes in the PANK2 gene. It belongs to a group of disorders called NBIA—Neurodegeneration with Brain Iron Accumulation.
PANK2 plays an important role in the body's production of coenzyme A. When it does not function properly, it disrupts normal cellular processes and leads to progressive damage in parts of the brain involved in movement.
PKAN can look different from person to person. Symptoms and the rate of progression vary, and researchers continue to study why the disease affects people differently.
There is currently no cure for PKAN. But there is active research aimed at changing that.
Where is PKAN research happening?
One of the major centers for PKAN research and care is Oregon Health & Science University (OHSU) in Portland, Oregon.
Dr. Susan Hayflick and her team have studied PKAN and related NBIA disorders for nearly three decades. Their work helped identify PANK2 as the gene responsible for PKAN, developed important disease models, and laid much of the scientific foundation researchers are building on today.
Today, researchers are pursuing several approaches to understanding and treating PKAN, including therapies aimed at correcting the underlying metabolic problem and gene therapy aimed at addressing the genetic cause of the disease itself.
Gene therapy + Loving Loic
One of the most ambitious efforts currently underway is a PKAN gene therapy project supported by the Loving Loic Foundation.
Loving Loic created the PKAN Gene Therapy Research Fund, which supports a collaboration between PKAN physician-scientists at OHSU and gene-therapy scientists at the Horae Gene Therapy Center at UMass Chan Medical School.
The goal is to develop a gene therapy for PKAN and move it toward a human clinical trial. Loving Loic reports that it has already raised $2 million toward the project and is working toward a total of $5 million by the end of 2026. The project has entered what the foundation describes as Phase III/IV of development, with several parts of the work moving forward in parallel.
This work exists in large part because families decided to make it happen.
Where do I begin?
A PKAN diagnosis can bring an enormous amount of information all at once. You don't need to understand everything today.
Learn about the research. Meet other families. Ask questions. Share what you know. And remember that the story of PKAN is still being written.
There are people working toward a cure every day—and there are ways for all of us to be part of that work.