SMA-PME Research is an approved 501(c)(3) nonprofit organization entirely dedicated to accelerating the development of effective treatments for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy — a devastating ultra-rare disease affecting children worldwide.

Our work is driven by the families of affected children who refused to accept a diagnosis without a cure. We fund cutting-edge private research, connect families across the globe, organize international scientific forums, and advocate tirelessly for earlier diagnosis and better outcomes.

SMA-PME is closely related to Farber disease — both conditions involve a deficiency in acid ceramidase, caused by mutations in the ASAH1 gene. Together, these conditions affect fewer than a few hundred children worldwide, which makes our community small — but our mission urgent.