MONTREAL, October 31, 2022 – The new Elisa Linton Research Chair in Lysosomal Diseases will drive research and help control Sanfilippo disease and similar syndromes. Thanks to a generous donation by The Sanfilippo Children’s Research Foundation and the dedicated work of researcher Alexey Pshezhetsky, biochemist at CHU Sainte-Justine, a treatment is now within reach for these currently incurable diseases that lead to dementia in children.

“Lysosomal disorders such as Sanfilippo disease cause a progressive loss of physical and mental abilities leading to premature death” explained Alexey Pshezhetsky, Director of the Elisa Linton Sanfilippo Research Laboratory at the CHU Sainte-Justine Research Centre. “It is one of the most terrible diseases because you see how your child deteriorates and you can’t stop it. It’s like having an Alzheimer disease at 10 years old.”

Generosity paves the way

Alexey Pshezhetsky has a long history with the Linton family more than 20 years ago founded The Sanfilippo Children’s Research Foundation in Toronto. Six years have passed since their youngest daughter Elisa Linton died from this rare genetic disorder on October 31, 2016. To mark this special anniversary, CHU Sainte-Justine Research Center wishes to recognize their continued generosity, which has ensured that Pshezhetsky and his team will be able to continue their research towards important scientific advances.

"Our Foundation funded Alexey's first Sanfilippo research project approximately 20 years ago which inspired valuable and vital discoveries,” shares Elisabeth Linton, one of the founders of The Sanfilippo Children’s Research Foundation. “We are thrilled to see how since then he and his team have moved research forward, and we are thankful for the understanding he has brought to light on Sanfilippo syndrome and the hope he continues to bring to families worldwide as his initiatives move to the next level."

One gift leads to another

The Linton family’s philanthropy allowed CHU Sainte-Justine to establish Canada’s first research chair in lysosomal diseases in September 2022. Pshezhetsky’s scientific breakthroughs supported by longstanding support from The Sanfilippo Children’s Research Foundation have made it possible to secure additional funding from GlycoNet (Canadian Glycomics Network), the Canadian Institutes of Health Research and the Canada Foundation for Innovation. The stage is set for us to make real progress in the fight against this still incurable disease, which affects thousands of children worldwide and hundreds of young Canadians.

Every reason to be hopeful

Research is already well underway. “We use molecules that cross the brain barrier, protect neurons and inhibit brain inflammation” said Pshezhetsky, also professor at the Université de Montréal.  “Our treatment is unique because it can be used on symptomatic patients. Two molecules have shown good results so far and have the potential to be tested soon in clinical trials in children suffering from this terrible disease.” For now, lysosomal diseases continue to claim lives, but with clinical trials on the horizon, the researcher intends to change that with an unprecedented breakthrough.

The long road to a cure

Tackling such a rare disease is quite a challenge for a researcher. First, you need to understand the disease and identify the genetic and biochemical abnormalities. Then, you have to develop treatments and test their effectiveness. This process takes many years, a lot of money and highly specialized scientific expertise. Alexey Pshezhetsky and his team have worked through each step of the process, meeting children afflicted with the disease along the way, as well as many parents who put their trust in CHU Sainte-Justine. Despite witnessing the devastation of the disease and the heartbreaking deaths of the young patients he had come to know, Pshezhetsky is determined to continue his research in the hope that one day he will be able to save all children with lysosomal diseases.

CHUSJ’s expertise in rare diseases

CHU Sainte-Justine is Eastern Canada’s referral centre for the evaluation, diagnosis and management of chronic, severe and rare childhood diseases, handling 70% of the region’s most severe cases. About 10% of these cases are rare diseases. CHU Sainte-Justine was recently designated by the Ministère de la santé et des services sociaux as the Quebec Centre for Clinical Genomics   and the centre responsible for the management of Lysosomal Diseases in Québec. A 15-year experience of Alexey Pshezhetsky as a co-supervisor of the Biochemical Genetics Diagnostic Laboratory at CHU Sainte-Justine, where he developed protocols and interpreted patient’s data for >25 lysosomal diseases, allowed him to gain a unique perspective on the epidemiology and clinical manifestations of these rare conditions.

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