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Alliance Sanfilippo and Sanfilippo Syndrome. Science must lead to cures! when progress is made in research on Sanfilippo Syndrome, the march toward brain medicine accelerates. 
Sanfilippo syndrome
The information on this website should not replace consultation with a doctor. This is general information about a particularly complex disease that differs in each case.
- Lysosome dans une cellule mésenchymateuse. © Inserm
SANFILIPPO syndrome is also called Mucopolysaccharidosis type III or MPSIII or MPS3.
It is a rare genetic disease that was identified in 1963 by a pediatric researcher at the University of Minnesota, Sylvester Sanfilippo, after whom it was named.
The genetic defect that causes the disease affects heparan sulfate metabolism. Heparan sulfate is a mucopolysaccharide (or glycosaminoglycan) that is normally degraded in cells, more precisely in the lysosomes that function as waste disposal units for this molecule. In MPS III, there is a deficiency in one of the enzymes needed to break down heparin sulfate which therefore accumulates and provokes the disorders characteristic of the disease. MPSIII is a lysosomal storage disease. There are four types of MPS III, each characterized by one of the four defective heparan sulfate degradation enzymes: MPS type IIIA, MPS type IIIB, MPS type IIIC, MPS type IIID.
In Europe, the disease is said to be rare when it affects fewer than five people out of 10,000 (or one in 2000). In the United States, a rare disease is generally defined as one for which the total number of patients is less than 200,000 for the entire country. Approximately 8000 rare diseases have been identified as of today, and experts estimate that over 60 million people (80% of whom are children) are affected by a rare disease in Europe and the United States alone. |
The accumulation of heparan sulfate in the lysosomes provokes dysfunctions in organs and tissues (such as the nervous system, liver, bones, lungs, kidneys). At birth, MPS III can go completely unnoticed; clinical symptoms appear gradually and differ greatly from one case to another. Variations can affect the number of symptoms, the age of on-set and order of their appearance, the severity of disorders (mainly behavioral disorders, mental retardation, ENT and respiratory problems, bone impairment). SANFILIPPO syndrome, like many other childhood rare diseases, is a severe, extremely incapacitating, multiple-disability disease.
Currently, the long-term prognosis is pessimistic because, until recently, no therapeutic research had been carried out for this disregarded disease, so often forgotten. Today, it remains a fatal disease with limited life expectancy for affected children.
However, significant new therapeutic trials are currently starting in Europe, bringing great hope to the fight against Sanfilippo syndrome, for the first time. In 2011, the world's first gene therapy trial for type A Sanfilippo syndrome is expected to be launched, thanks to the work that Alliance SANFILIPPO has done since it was founded in 2006. Concurrently, an ERT approach by intrathecal injection is being studied in a clinical trial.