Sanfilippo Children's Foundation

Sanfilippo Children’s Foundation drives research for a world without Sanfilippo syndrome, a genetic childhood dementia with a life expectancy of only 12-20 years of age. Children with Sanfilippo are missing an enzyme that clears waste from the cells in the body, and over time this waste builds up and turns toxic. As damage to the cells occurs, especially in the brain, children lose their language and the skills they’ve learned, eventually regressing into dementia. It is a heartbreaking condition, and while there are no currently available treatments, there are promising therapies on the horizon bringing hope solutions may be available in the future.

The Foundation supports families by connecting them with researchers and the broader Sanfilippo community, holding family retreats, and giving families a voice on issues that affect them not just in Australia but around the world. Since inception in 2013, the Foundation has directed nearly $8 million into promising research projects, including bringing a clinical trial to Australia and establishing the groundbreaking ‘Brain in a Dish’ project to develop cell models and test therapies in the hopes of identifying new treatments for Sanfilippo. The Foundation established and leads a global alliance of patient organisations striving towards the same goal – solving Sanfilippo. This collaboration is centred around achieving the goals of the Global Research Roadmap for Sanfilippo Syndrome Therapies developed by the Foundation – a roadmap endorsed globally as the blueprint for delivering rapid solutions to individuals affected by Sanfilippo.

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