Sanfilippo syndrome: Major advancement towards developing a treatment

For the first time, a team co-led by CHU Sainte-Justine researcher and professor in the Faculty of Medicine at Université de Montréal, Alexey Pshezhetsky has succeeded in resolving the unique structure of the HGSNAT enzyme, a deficiency of which causes Sanfilippo syndrome, a rare pediatric disease affecting the central nervous system. Through collaboration with a team from Shanghai University, the structure of this enzyme and the mechanism of its function were revealed using high-performance cryogenic electron microscopy. This discovery will enable the development of new treatments for Sanfilippo disease as well as similar fatal neurodegenerative disorders. 

Paving the Way for New Treatments

As the Elisa Linton Research Chair in Lysosomal Diseases, Professor Alexey Pshezhetsky is actively working to translate this new knowledge into clinical applications. "In collaboration with Professor Christopher Cairo from the University of Alberta, we are currently determining which small molecules bind best to the enzyme and, therefore, would be most effective in treating the disease," he added. 

Discussions are already underway with other Canadian researchers to study treatments that combine CT with gene therapy or stem cell-based therapy. "Confidence in the effectiveness of such combined approaches is currently growing, and we are certain that over the next few years, a new therapeutic strategy will be developed to benefit affected children and their families," he concluded.