Australian study repurposes existing medicines to slow childhood dementia progression in Sanfilippo syndrome

Researchers from Flinders University have identified nine approved medicines that could potentially slow brain damage in children with Sanfilippo syndrome, offering new hope for an otherwise incurable neurodegenerative disorder.

Australian researchers say they have found several existing medicines that could help slow brain damage in children with Sanfilippo syndrome, a rare and devastating form of childhood dementia that currently has no widely available treatment. In work published in Nature Communications, the team says it used patient-derived brain cells, advanced imaging and machine learning to speed up the search for drugs that might improve the health of diseased cells.

Sanfilippo syndrome is a severe inherited disorder that usually begins in early childhood and progressively affects memory, behaviour and physical development. Medical summaries of the condition note that it belongs to a group of rare neurodegenerative disorders with no cure, leaving families to manage symptoms while researchers look for better therapies.

The Flinders University-led team built its model by reprogramming skin cells from affected children into brain cells that mimic the disease in the laboratory. According to the study, those cells reproduced key features of Sanfilippo syndrome, including toxic build-up, inflammation and ongoing cell loss. The researchers then screened 63 approved medicines and identified nine that improved cell function within two weeks, with some reducing damage and others restoring signalling linked to learning and behaviour.

Professor Cedric Bardy of Flinders University, who led the study, said the approach could shorten the path from laboratory discovery to treatment because the medicines have already been approved for other uses. The research, which involved Flinders University, SAHMRI, the University of Adelaide and the Women’s and Children’s Health Network, also builds on earlier work from the same group showing that Sanfilippo brain cells become abnormally overactive during early development.

The findings suggest that combining repurposed drugs may produce stronger and longer-lasting effects than using a single treatment alone. Megan Maack, chief executive and founder of the Childhood Dementia Initiative, said the work matters beyond Sanfilippo syndrome because it shows that progress is possible in childhood dementias that have so far had no targeted therapies. The researchers say further studies are still needed, but they believe the platform could also help test treatments for other brain disorders, including Alzheimer’s disease.