Four new projects for Sanfilippo syndrome research commence in 2024

26 Mar 2024

We are delighted to announce funding for four new research projects from our 2023 grant round.

Projects submitted to our grant rounds undergo robust scientific review by expert international reviewers and our Scientific Advisory Board, as well as a review for impact by our Family Consultation Panel. We are grateful to everyone who volunteers their precious time in this process and to our co-funders and all the donors and supporters who make this funding possible.

The four new research projects will take place in Canada and Australia with three exploring potential drug repurposing and therapy combinations to target the impact of Sanfilippo on the central nervous system and the lungs. A fourth project will aim to uncover the mechanisms of neurodegeneration by probing the similarities between Alzheimer’s disease and Sanfilippo

In a project co-funded with Cure Sanfilippo Foundation (USA), Professor Pshezhetsky, from Centre Hospitalier Universitaire Sainte-Justine and University of Montreal, Canada, and his team will investigate if an amyloid-blocking therapy combined with bone marrow transplantation can prevent the development of progressive brain disease in mice with Sanfilippo types A, B and C. 

Bone marrow transplant alone, which is used for some other types of MPS disorders, has been shown to be generally unsuccessful for Sanfilippo, but it can potentially help reduce inflammation in the brain. Professor Pshezhetsky hopes that by combining it with another therapy that reduces the secondary build up of abnormal protein aggregates (amyloid) in the brain will increase its effectiveness and prevent neurodegeneration.

Read more about Professor Pshezhetsky’s project here.

Dr Emma Parkinson-Lawrence from the University of Adelaide, Australia, will lead a large collaborative team to help better understand why individuals with Sanfilipp are so susceptible to respiratory infections and whether this can be prevented. They will study the effects of a respiratory challenge with a fungus that can cause chest infections on the lungs of a Sanfilippo mouse model. They will then test if preventative treatment with azithromycin, a drug commonly used for people with lung conditions, can help reduce the risk of lung infections. We are delighted to be co-funding his project with Sanfilippo Fighters, Italy.

Read more about Dr Parkinson-Lawrence’s project here

Together with Cure Sanfilippo Foundation, USA, we are funding a project by Professor Hemsley and  Dr Siti Mubarokah from Flinders University, Adelaide, and their collaborator Dr Nick Smith, from the Women’s and Children’s Hospital, Adelaide. Retina damage and vision loss are common in Sanfilippo and drugs that help prevent retinal damage are also likely to help treat the brain. In this project, skin cells from patients with attenuated (slowly progressing) Sanfilippo type A will be rapidly re-programmed in the lab to form retina cells. These patient-derived ‘photoreceptor-like’ cells grown in lab dishes will then be used to screen a panel of previously approved drugs to see if any of them can prevent or reduce the damage seen in the Sanfilippo cells.

Read more about Professor Hemsley’s project here.

Sanfilippo Children’s Foundation has also partnered with the Brain Foundation, Australia, to co-fund a project by Dr Barthelson and her colleagues from the University of Adelaide and Flinders University. They will investigate the molecular similarities between Sanfilippo and early-onset familial Alzheimer’s disease. 

While adult onset dementia and childhood dementias can have very different causes, closer examination of the brains of these patients and animal models shows that they share many of the same signs of damage and inflammation in the brain. Dr Barthelson and her colleagues will use zebrafish models of early onset adult dementia and Sanfilippo syndrome type B to compare the many different genes that are switched on and off in the brain as a result of these diseases. This will allow them to identify common pathways and molecules that could potentially be targeted with drugs to help treat the disease and prevent the death of neurons in the brain.

Read more about Dr Barthelson’s project here.