2024 Solving Sanfilippo Symposium - a meeting of minds

28 Jun 2024

The annual Australian gathering of researchers, clinicians and parents dedicated to sharing progress and ideas on Sanfilippo research continues to go from strength to strength, with the 2024 Solving Sanfilippo Symposium bringing together nearly 90 people. 

Growing from a gathering of just 30 in 2020, this is a testament to the thriving Sanfilippo research community here in Australia and the international connections we continue to build.

Held at the South Australian Health and Medical Research Institute (SAHMRI), in Adelaide, and online on 31st May and 1st June 2024, the Symposium spanned a day and a half of fascinating presentations and discussions and culminated in a wonderful tour for families of the zebrafish and fruit fly research facilities at the University of Adelaide. 

The symposium kicked off with an update from Professor Edwin Kirk on MacKenzie’s Mission. This large project investigated the potential impact and feasibility of genetic carrier screening for hundreds of serious conditions for couples who are planning families. Implementation of this as a standard part of the Australian healthcare system will take more time, but the project demonstrated strong uptake and provided crucial options for families who were potentially faced with devastating genetic conditions like Sanfilippo.

This was followed by presentations and an important panel discussion on the technologies and practical and ethical issues surrounding the implementation of newborn bloodspot screening (NBS) for Sanfilippo syndrome in Australia. Professor Michael Gelb from the University of Washington, USA, provided convincing evidence that Sanfilippo and related mucopolysaccharidoses can be safely and accurately detected in newborn blood spots using metabolic techniques, and Dr Carol Siu discussed the considerations for selecting the genetic conditions to screen for in the NewbornsinSA study which is piloting the use of a genomic NBS techniques. Australian clinicians Dr Khaustuv Bhattacharya and Dr Shanti Balasubramaniam and newborn screening expert Dr Enzo Ranieri discussed the health system changes that will be required to support patients and families and connect them to clinical trials, supportive care and treatments should NBS be introduced for Sanfilippo in the future.

We heard from Professor Simon Jones from the University of Manchester on the clinical trial sponsored by Orchard Therapeutics of an ex vivo gene therapy for Sanfilippo syndrome type A. While the patients continue to be followed, very promising results have been seen in four of the five patients treated, who have shown significant improvements in many aspects of their physical health and neurocognitive development.

Researchers from the flagship Brain in a Dish research project, funded by Sanfilippo Children’s Foundation and the Australian Government’s Medical Research Future Fund, provided an exciting update on the important insights into the biology of Sanfilippo syndrome gained through studying neurons derived from patients’ skin cells. They have identified several interesting medications that are worth exploring further for their ability to restore normal function to the neurons in the dish.

Dr Johannes Schlachetski joined us online from the University of California San Diego, to share the progress he has made in his project, co-funded by Sanfilippo Children’s Foundation and Fondation Sanfilippo Suisse. He has been unpicking the contribution that the inflammatory cells of the brain, the microglia, make to disease progression and whether a treatment targeted at microglia can help reduce the rate of progression. 

Along with several presentations on the use of mice, fish and flies to better understand the biological mechanisms underpinning Sanfilippo syndrome and test treatments, we had an important discussion led by Professor Kim Hemsley from Flinders University on the resources and models available globally to study Sanfilippo syndrome and how we can best make use of them to drive the field forward. 

We also have much to gain from sharing methods, insights and treatment ideas with our colleagues working on related disorders. To this end we heard from two researchers on Niemann Pick Disease type C (NPC). Dr Ya Hui Hung from the Florey Institute, Melbourne, shared her research to develop a type of genetic therapy that uses messenger RNA instead of DNA to treat NPC and the nanoparticles used to deliver it to the brain. Professor Mark Walterfang from the University of Melbourne provided an overview of a recently completed clinical trial in which a repurposed drug, N-acetyl-L-leucine, was used to treat NPC with encouraging results in addressing some symptoms and slowing disease progression. 

Important practical insights were provided for families and researchers alike by speech therapy researcher Lottie Morison from the University of Melbourne on how best to anticipate the communication needs of children with progressive neurological conditions, and Kimberlee Murdoch, a disability support coordinator, who discussed the considerations needed to optimise disability support and quality of life for children with progressive conditions.

As in previous years, the many parents and carers in attendance helped ground these scientific discussions in the realities of living with a diagnosis of Sanfilippo in the family, and what it means to them to be a part of the ongoing efforts and progress in the scientific community. We are particularly grateful to Sarah, Jillian, Teresa and Bala for sharing their families' stories, and for their inspiring words.

Thank you to Professor Cedric Bardy and his team for all the help they provided in hosting us at SAHMRI, and to Dr Karissa Barthelson, Ewan Gerken and their colleagues at the University of Adelaide for giving the families such a fantastic behind-the-scenes tour of the laboratory.

A special thank you to the CommBank Staff Foundation whose support made it possible to bring everyone together at this year’s symposium.

Some presentations and discussions from the Symposium are available to watch on our YouTube channel.