Research programme led by dr. Anna Fournier with the Swiss Data Center (joint-venture between EPFL and ETH Zürich, Switzerland): a deep learning method for identifying molecules to be repositioned for MPS.

The Swiss Data Science Center (SDSC), established in 2017 through a partnership between EPFL and ETH Zürich, is dedicated to accelerating the adoption of data science and machine learning techniques across various fields, spanning academic disciplines to the public and industrial sectors. As part of its research and development initiatives, the SDSC is spearheading a project at the forefront of technological advancements. Researchers are leveraging artificial intelligence and existing databases to craft an algorithm aimed at identifying innovative molecules ripe for repositioning in the treatment of MPS (mucopolysaccharidosis) diseases. The initial findings of this project are presently undergoing analysis.

Research programmes led by dr. Johannes schlachetzki and dr. Philip Gordts, University of San Diego (California, USA): strengthening lysosomal function and targeting neuroinflammation using a small compound for the treatment of Sanfilippo syndrome. Research co-funded with the Sanfilippo Children’s Foundation (Freswater, Australia).

Initiated in January 2023, this project aims to assess the potential therapeutic efficacy of a drug named C381 for Sanfilippo syndrome while elucidating its mode of action. Ongoing testing of the anti-inflammatory compounds has shown no observed toxicity thus far.

Research programme led by Prof. Kim Hemsley, Flinders University (Adelaide, Australia): Creation of a new preclinical animal model of Sanfilippo syndrome. Research work co-financed with the Sanfilippo Children’s Foundation (Freshwater, Australia).

The team worked on the creation and characterisation of a new mouse model for Sanfilippo type A disease, the R245H variant. This variant is common in patients suffering from this disease. It is present in 58% of patients in the Netherlands and up to 31% of patients in Australasia. The project has received all the necessary ethical approvals. The mouse model will make it possible to test chaperone drugs, a potential therapeutic option for patients with this variant, and could help to advance the development of treatments for this disease.

Research programme led by dr. Lachlan Jolly, University of Adelaide (Adelaide, Australia): a pragmatic approach to Sanfilippo syndrome. Research co-funded with the Sanfilippo Children’s Foundation (Freshwater, Australia).

This research initiative, under the leadership of Dr. Lachlan Jolly, aims to develop new drugs targeting a process known as nonsense-mediated disintegration, utilizing a Sanfilippo type A cell model. The team has successfully generated ten new cell lines, with two demonstrating promising responses. Complementary experiments are currently underway. The ultimate goal of this project is to develop treatments for the most severe forms of Sanfilippo disease, along with other rare genetic disorders associated with nonsense mutations.

Research programme developed by dre. De Agostini and now directed by prof. Sizonenko and dre. Veraldi with the University of Geneva (UNIGE) and the University Hospitals of Geneva (HUG): interfering with the first stage of catabolism of heparan sulfates (HS) as a strategy for reducing pathological intracellular accumulation in patients with Sanfilippo syndrome.

This pioneering Swiss programme, supported by the Foundation, aims to assess the effects of treatment with a heparinase-inhibiting polysaccharide on the MPS III A (Sanfilippo disease) mouse model. Initial results have been promising, leading to the drafting of a manuscript submitted for scientific publication and the filing of a patent. Ongoing work is focused on confirming the preliminary findings obtained in Sanfilippo mice.

Research programme led by dr. Louise O’Keefe, University of Adelaide, and the SAHMRI (South Australia Health and Medical Research Institute, Adelaide, Australia) aimed at targeting autophagy in Sanfilippo syndrome.

Research co-financed with the Sanfilippo Children’s Foundation (Freshwater, Australia).

Research programme led by dr. Adeline Lau and prof. Kim Hemsley, flinders university (Adelaïde, Australia), in collaboration with prof. Vito Ferro, University of Queensland (Saint-Lucia, Australia), on small molecule drug therapy for MPS III A.

Research co-financed with the Sanfilippo Children’s Foundation (Freshwater, Australia).

Programme led by dr. Marc Martinell, CEO of Minoryx Therapeutics (Barcelona, Spain), on chaperone therapy

Programme led by Dr. Haiyan Fu and Dr. Douglas Mccarty, Research Institute at Nationwide Children’s Hospital (Columbus, Ohio, USA), on gene therapy for MPS III A and III B.

Programme led by the laboratory of Prof. Olivier Martin, University Of Orleans (Orleans, France)

Development of inhibitors of β-galactosidase and β-glucuronidase as candidate chaperone molecules in in-vitro models of Morquio B and Sly syndromes.

Development and evaluation of chemical chaperones for NAcetylglucosaminidase 

a) Programme led by Prof. Matthieu Solloboug’s team at CNRS/UMR Université Pierre et Marie Curie (Paris, France), UMR/CMRS 6514 (Poitiers, France) and Glycobiology Institute (Oxford, UK). 

b) Programme led by Dr. Stéphane Demotz, DORPHAN SA, and the EPFL Innovation Park (Lausanne, Switzerland).

Trial led by the team of Prof. Marco Sardiello, Texas Children’s Hospital

Study of the therapeutic activity of trehalose in MPS.

Programme organised by Lysogene (Paris, France) and the Telethon, with Prof. Marc Tardieu, Necker-Enfants Malades Hospital and Kremlin-Bicêtre Hospital (Paris, France): Intracerebral Gene Therapy

Research work led by Adeline Lau, University of Adelaïde (Adelaïde, Australia): Bone marrow transplants