Sanfilippo Syndrome is one of the most-devastating diagnoses a parent can receive for their child.
Sanfilippo Syndrome — also known as Mucopolysaccharidosis type III or MPS III — is a terminal, neurodegenerative rare disease. Early in life, it causes young children to lose all the skills they’ve gained, such as walking, talking, and even swallowing. They become severely disabled, suffer seizures and movement disorders, and experience great pain and suffering, before they die, often in their teens.
Because of its neurodegenerative nature, Sanfilippo Syndrome is known as “childhood Alzheimer’s” or “childhood dementia.”
Children suffering with Sanfilippo Syndrome have no FDA-approved treatment available. Research and a handful of clinical trials are showing promising results. Progress is being made, but funding will determine whether a treatment will be available for this generation of children.
- Sanfilippo Syndrome is a form of childhood dementia
- There are 70+ childhood dementia disorders
- Like in adult dementias such as Alzheimer’s and Parkinson’s, toxic build-up of amyloid, TAU, and alpha-synuclein also occurs in Sanfilippo Syndrome
- An estimated 15,000+ children in the USA suffer from childhood dementia
- The economic cost-burden of Sanfilippo Syndrome is estimated at more than $2 billion annually, and the cost-burden of childhood dementia is more than $2.5 trillion annually
- Research in Texas on Sanfilippo Syndrome is currently happening at Texas Children’s Hospital and UT Southwestern Medical Center
- Research funding for rare diseases like Sanfilippo Syndrome is extremely challenging, leaving patient-led organizations like Cure Sanfilippo Foundation to fund critical research. NIH grants and pharmaceutical investment are very limited
The research into treatments for Sanfilippo Syndrome and childhood dementia needs increased funding and attention.