Our Goal
Team Sanfilippo Foundation is committed to saving young lives and pushing the boundaries of science to find a cure for Sanfilippo Syndrome. We are dedicated to driving cutting-edge research and providing vital funding to accelerate the discovery of treatments and a cure.
Key Facts about Sanfilippo Syndrome
Neurodegenerative: It causes irreversible damage to the brain and nervous system.
Terminal: There is currently no cure, and it significantly shortens life expectancy.
Impact: Children lose abilities like talking and walking, and experience profound suffering.
Subtypes: There are four main subtypes (A, B, C, D), each corresponding to a missing or improperly working enzyme critical for breaking down heparan sulfate. Type A is generally the most common and severe.
Despite the profound challenges, there is active research and a growing sense of hope. Team Sanfilippo Foundation is at the forefront of these efforts.
What is our goal?
Our primary aim is to identify and advance potential therapies and fund the clinical trials of these therapies. Our therapies are intended to prevent or significantly delay the severe neurological symptoms that affect children with Sanfilippo Syndrome.
How are we working towards this?
We’ve built a powerful partnership bringing together leading scientists from universities, industry, and government institutions. Each scientist brings unique expertise, fostering a collaborative environment where knowledge is shared and research efforts are amplified. We hold regular discussions and annual meetings to ensure we are always focused on our common goal: finding effective treatments for Sanfilippo.
Our research is focused on three critical areas to find these potential therapies:
High-throughput Screening for Drug Identification: We use advanced screening methods to identify promising compounds that could become treatments.
Animal Models for Drug Testing: We use specialized animal models to rigorously test these potential drugs, ensuring they are safe and effective before moving to human trials.
Biomarker Identification: We are working to find specific indicators in the body that can tell us how the disease is progressing and whether a treatment is working, making clinical trials more efficient.
Leading the Way with Progress
We are proud of our accomplishments to date. We’ve brought on an experienced Project Manager with a strong pharmaceutical research background, with a proven track record with similar rare genetic conditions. Most importantly, we’ve already hosted a significant scientific meeting, bringing together over a dozen top scientists from institutions like the FDA and NIH. These experts are eager to share their knowledge and help us build a strategic plan to achieve our treatment goals.
