Project: „How close are we to therapies for Sanfilippo disease?”, Lidia Gaffke, Karolina Pierzynowska, Ewa Piotrowska and Grzegorz Węgrzyn, University of Gdansk, Poland


Sanfilippo disease is one of mucopolysaccharidoses (MPS), a group of lysosomal storage diseases characterized by accumulation of partially degraded glycosaminoglycans (GAGs). It is classified as MPS type III, though it is caused by four different genetic defects, determining subtypes A, B, C and D. In each subtype of MPS III, the primary storage GAG is heparan sulfate (HS), but mutations leading to A, B, C, and D subtypes are located in genes coding for heparan N-sulfatase (the SGSH gene), α-N-acetylglucosaminidase (the NAGLU gene), acetyl-CoA:α-glucosaminide acetyltransferase (the HGSNAT gene), and N-acetylglucosamine-6-sulfatase (the GNS gene), respectively. Neurodegenerative changes in the central nervous system (CNS) are major problems in Sanfilippo disease. They cause severe cognitive disabilities and behavioral disturbances. This is the main reason of a current lack of therapeutic options for MPS III patients, while patients from some other MPS types (I, II, IVA, and VI) can be treated with enzyme replacement therapy or bone marrow or hematopoietic stem cell transplantations. Nevertheless, although no therapy is available for Sanfilippo disease now, recent years did bring important breakthroughs in this aspect, and clinical trials are being conducted with enzyme replacement therapy, gene therapy, and substrate reduction therapy. These recent achievements are summarized and discussed in this review.

Link to the article: How close are we to therapies for Sanfilippo disease?; Gaffke, L., Pierzynowska, K., Piotrowska, E. et al. Metab Brain Dis (2018) 33: 1.

How does the project help patients?

The article summaries the recent achievements and discusses the possible way forward to give patients overview of the possible therapy avenues.

Chief investigator: Prof. Grzegorz Wegrzyn
Project title: How close are we to therapies for Sanfilippo disease?
Location: University of Gdansk, Poland
Status: Completed
Start date: February 2017