Despite individual low prevalence, rare diseases (>7,000) collectively affect between 263 million and 446 million people worldwide. Most (95%) rare diseases do not have approved treatment and approximately 45% cause neurological disorders. We initiated “Treatment for those who have none” platform for Western Australian children with a rare disease in 2021, with support from a Channel 7 Telethon Trust research grant. The purpose of the platform is to accelerate treatments from bench to bedside for rare diseases using antisense oligomer-mediated modulation of gene expression.

Through Rare Care Centre, Perth Children Hospital, we recruited patients diagnosed with a rare disease, and analysed the consequences of the mutation at the RNA levels. Based on these observations and known pathogenic mechanisms, we selected three patients, two with neurological disorders and one with kidney disease, for ASO design and assessment. We designed ASOs to either increase levels of gene expression for the children with neurological problems or redirect pre-mRNA splicing to induce a truncated protein with some functionality for the child with kidney disease. 

Within 18 months, we have designed ASOs and performed proof-of-concept studies in patient-derived cells for three rare diseases Kleefstra syndrome, Birk-Landau-Perez Syndrome and Alport syndrome. With this experience, we are now extending this platform nationwide through collaborations with Royal Brisbane Hospital, Queensland University Technology, University of New South Wales, Garvan Institute, Sydney Children Hospital network, Murdoch Children Research Institute, and Royal Hobert Hospital. We aim to integrate this program into the healthcare system as a treatment route for rare diseases.