New funding boosts treatment for ultra-rare childhood dementia

Researchers at The Florey will lead a project advancing a potential new treatment for Niemann-Pick Disease Type C1 (NP-C) – an ultra-rare genetic disorder leading to progressive brain degeneration.

With funding from the Australian Government announced today (14 March), The Florey’s Dr. Ya Hui Hung will lead a team of researchers from Royal Melbourne Hospital and Monash University to develop a messenger RNA (mRNA)-based gene therapy for NP-C.

Using this gene therapy approach – the same mRNA technology employed to create COVID-19 vaccines –researchers hope to correct the action of the mutation in the gene that causes NP-C.

Female researcher looks at DNA sequence on a computer screen

Niemann-Pick Type C affects the body’s ability to metabolise cholesterol and other fatty acids leading to a toxic accumulation in the body’s cells affecting the brain and other organs. This causes progressive intellectual decline, loss of motor skills, seizures and dementia.

The Australian NPC Disease Foundation says NP-C arises in 1 case per every 90,000 births, however, it is considered highly likely that this is an underestimate due to a mixture of factors – chiefly, failure to recognise the clinical characteristics and a previous lack of definitive diagnostic tests.

By working closely with families and doctors treating patients with NP-C, Dr. Hung hopes her research will serve as a blueprint to establish an mRNA-based gene therapy pipeline for other types of childhood dementia.

“I look forward to collaborating with Royal Melbourne Hospital, Monash University, and our consumer partners, the Australian NPC Disease Foundation, Inc. and Childhood Dementia Initiative, to make a difference for this ultra-rare disease,” said Dr. Hung.

Dr. Hung’s team hope their research will lead to better health outcomes for NP-C patients both in Australia and around the world.

Professor Mark Walterfang, neuropsychiatrist at the Royal Melbourne Hospital, added: “It’s fantastic to have this collaboration with Dr Hung and The Florey team, and so critically important to our patients and their families who live with NP-C and face the prospect of ongoing disease progression without access to disease-modifying treatment.”

This research is made possible with funding of $600,000 from the Australian Government’s Medical Research Future Fund in March 2023. Read the announcement from the Federal Minister for Health and Aged Care, The Hon Mark Butler MP.