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What is Sanfilippo Syndrome?

Imagine Alzheimer’s, but in children.

In a nutshell, that’s what every family of children with Sanfilippo Syndrome faces.

Sanfilippo Syndrome (also known as Mucopolysaccharidosis III) is a terminal, neurodegenerative rare disease. It causes children to lose all the skills they’ve gained, suffer seizures and movement disorders, experience pain and suffering, and then die, often before the second decade of life.

Because of its neurodegenerative nature and multi-system impact, Sanfilippo is often called "childhood Alzheimer's."

Currently there is no FDA-approved treatment or cure for Sanfilippo Syndrome.

Children are born with Sanfilippo Syndrome, but it is invisible until they start exhibiting developmental delays or regression in their early years. It affects 1 in 70,000 children.

There are 4 subtypes of Sanfilippo (A, B, C, D) that have been identified. Each represents a unique enzyme defect that causes the accumulation of a sugar molecule called heparan sulfate. The continuous build up of heparan sulfate affects the brain and body of the child.

Learn more about the symptoms of Sanfilippo, how to get diagnosed, prognosis, current research, and more below.

Figure depicting progressive disability of Sanfilippo Syndrome in child compared to a neurotypical child

One family's story

This video is the story of Eliza O’Neill and her family. It’s a story similar to the one every Sanfilippo families experiences. Please take a moment to watch.

What Causes Sanfilippo Syndrome?

Children with Sanfilippo are born with a single gene defect, a single change in their DNA, that causes their bodies to lack a necessary enzyme. Because of the lack of enzyme, their bodies are unable to breakdown heparan sulfate, a natural cellular waste. Instead, their bodies and particularly brains become clogged with toxic levels, which causes a cascade of detrimental effects and ultimately death.

What Are the Symptoms and Prognosis?

The effects of Sanfilippo start at birth, but don’t become noticeable until 2-6 years old. As the toxins build up because of Sanfilippo, the cellular damage progresses. Relentless and devastating, Sanfilippo has 100% mortality rate, with children typically passing away in their early teens.

How Is Sanfilippo Diagnosed?

It often takes years to receive a correct diagnosis of Sanfilippo Syndrome. Due to its rarity and lack of physician awareness, a child’s symptoms are often classified as developmental delay and/or Autism until a thorough medical workup is done to identify the underlying cause.

Where Does Research For a Cure Stand?

Today, there is no FDA-approved treatment or cure for Sanfilippo. Clinical trials are happening, and other treatment strategies are in pre-clinical research and require funding.

Has Your Child Been Diagnosed with Sanfilippo?

If your child has been diagnosed with Sanfilippo or is currently awaiting testing, we are here for you. Contact us to learn about Sanfilippo, get expert answers to your questions, and learn about clinical trial options.