Sanfilippo Syndrome is a devastating, genetic neurological disorder with no approved treatment or cure. Also known as MPS III, it is part of the family of Mucopolysaccharidosis (MPS) diseases. It is causes by an enzyme deficiency which results in accumulated waste materials that progressively destroy the brain and central nervous system.
Parents of affected watch their children develop normally for the first two to three years of their life, hitting all their milestones. Children rapidly decline between three and six, often losing all speach. By age ten, children are typically wheelchair bound. At age 12, many children receive food through a g-tube because they are no longer able to chew or swallow. Life expectancy of an affected child is only fifteen years old.
We are single-mindedly devoted to finding a cure to Sanfilippo Syndrome through gene therapy. In layman's terms, gene therapy uses a biologic agent (like a virus) to insert functional copies of the defective gene into affected patients. Once inserted, copies of the gene cause the body to continually express the missing enzyme. The enzyme produced by the newly inserted functional copies of the gene cause the body to clear the accumulated waste material.
For very rare diseases like Sanfilippo (which affects roughly 1 in 70,000 births), it is up to patient advocates to drive the science. Big pharmaceutical companies are also typically not in the business of developing once in a lifetime cures.
The Sanfilippo Foundation for Children was founded in 2011 by Roy Zeighami. Roy's son Reed (born in 2007) was his inspiration in forming the foundation. You can read his personal blog to learn more about their family. Roy has testified to the Rare Disease Caucus of the US Congress (see video below), spoken at Pfizer's Orphan Disease Day, and met personally with leaders at the FDA. Roy also serves on the board of directors for the US National MPS Society.