What is Sanfilippo Syndrome?

Sanfilippo syndrome is a genetic error of metabolism. It is a mucopolysaccharidoses, an MPS disorder, MPSlll. Mucopolysaccharides are long chains of sugar molecules, which are used in building connective tissues. When the body is finished using these molecules, it breaks them down, with enzymes, and disposes of them. Children with Sanfilippo syndrome are missing or are deficient in the enzyme to break down the molecules. Instead, the body stores these molecules in the cells. This storage causes progressive damage.
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Press Releases

          On Wednesday March 12, 2104 in Bethesda, MD. We joined the researchers & doctors from Nationwide Children’s Hospital, Abeona Therapeutics, and … Learn More

Community News

National Rare Disease Day February 28th!  Jonny -Lee Miler of "Elementary" advocates for Sanfilippo. CBS did an excellent … Learn More

Scientific Board

Our Scientific Research Advisory Board was established to provide Team Sanfilippo scientific advice, guidance and constructive criticism in our exploration of innovative research projects to fund. Learn More

Board of Directors

Our volunteer Board of Directors are mostly parents of children with Sanfilippo Syndrome who organized with one goal in mind, “to provide a better life and ultimately a cure for Sanfilippo Syndrome.” Learn More


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