Building the Future PRRT2 Patients Deserve

Support PRRT2 Foundation

PRRT2 Foundation is the first organization built exclusively around this gene mutation. No two PRRT2 stories look the same — a parent reading a newborn's genetic results for the first time and wondering what their child's life will look like, an adult who spent decades chasing a diagnosis no one could name, a patient whose symptoms kept shifting with no one able to explain why. What connects every one of those stories is the same silence: no dedicated knowledge base, no registry, no research built for this gene — until now. Your donation is what turns that silence into answers, funding the knowledge base, patient registry, and research partnerships that every person living with a PRRT2 mutation deserves.

There's a second gap most families don't discover until they're already living with it: no medication has ever been designed for PRRT2 itself. Every prescription in use today is borrowed from somewhere else — anticonvulsants built for epilepsy, movement-disorder medications developed for Parkinson's — and used off-label because nothing else exists. For some, like paroxysmal kinesigenic dyskinesia, low doses of a repurposed anticonvulsant can work remarkably well. But for many others — persistent dystonia, exertion-triggered episodes, hemiplegic migraine — patients and families are left cycling through medications that were never built for this gene, absorbing side effects that come from an imperfect fit rather than the right treatment. Getting to real, targeted options starts with the research this Foundation is funding.

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