About Sanfilippo Syndrome
Sanfilippo Syndrome, otherwise known as Mucopolysaccharidosis IIIA (MPS IIIA), is a rare genetic disease that affects children. It is due to a deficiency in a particular enzyme that fails to break down long chains of sugar molecules (heparan sulfate), which leads to build up of waste in the cells. This causes damage throughout the brain and body.
Sanfilippo is a progressive disease, eventually leading to death in the early teen years. Children are usually born showing no signs or symptoms of the disease; however, as more and more cells become damaged, symptoms begin to appear. Children usually begin to show developmental delays, restlessness, sleeplessness, and difficult behaviors during the preschool years, then language is usually lost around 5-6 years. Children continue to lose all the skills gained during the early part of their lives, eventually even losing the ability to walk and swallow on their own.
There is currently no cure or treatment.
Nationwide Children's Hospital News & Research
Abeona Therapeutics (Biotech company for NCH Clinical Trials)
Other Current Research
Current Sanfilippo research at the clinical stage (ClinicalTrials.gov)
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