Sanfilippo Syndrome Type A (MPSIIIA)

Sanfilippo Syndrome Type A (MPSIIIA) with the highest prevalence in mucopolysaccharidosis (MPS) type III is a hereditary lysosomal storage disease (LSD), causing gradual damage to the central nervous system (CNS) due to accumulation of heparan sulfate in the CNS.

MPSIIIA is an autosomal recessive disorder caused by a defect in the gene (SGSH) responsible for the production of heparan sulfate-degrading enzyme.

MPSIIIA is a serious disease in which patients die around the age of 15. The diagnosis is usually delayed due to the mild physical changes at birth, but aggressive behavior and developmental delays are evident at the age of 2 to 6 years, leading to the loss of motor and cognitive function with progression of symptoms.

  • Rare Genetic Disease

  • LSD

    deficiency of heparan
    sulfate-degrading enzyme

  • 1:100,000

    live birth prevalence

  • Neurodegenerative

    death around age 15

  • No Treatment



MPSIIIA involves the least physical abnormalities among mucopolysaccharidoses. Affected infants appear normal at birth in general or show minor facial deformations.

At the age of 2 to 6 years, developmental delays, intellectual disabilities, seizures, sleep disorder, and behavioral disorders such as tantrums and aggressiveness begin to appear. However, it is very difficult to control and treat patients with these behavioral disorders as the patients have no problem in muscle strength and movement.

As the disease progresses, deterioration in intelligence, motor function loss, and seizures may occur. The affected patients would need a gastrointestinal tube insertion for food supply and die around the age of 15 eventually.


The incidence of MPSIIIA is estimated to be 1 in 100,000 live births.


As there is no effective treatment for MPSIIIA, patients are relying on symptomatic treatment to relieve symptoms.

The technology and know-how of the Hunterase can be applied to develop a treatment for MPSIIIA as the disease is a kind of mucopolysaccharidosis and lysosomal storage disease like Hunter Syndrome (MPSII).

Novel Pharma is developing a treatment for MPSIIIA that directly administers the deficient enzyme in the central nervous system by applying ICV administration established through clinical trials of Hunterase ICV.

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