Repositioning drugs for a rare disease

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The Sanfilippo syndrome, also known as mucopolysaccharidosis III (MPS III), is a rare genetic disease which affects 1 in every 70,000 children. Because of its neurodegenerative nature and multi-system impact, the Sanfilippo Syndrome is often called “childhood Alzheimer’s” or “childhood dementia.”

Photo of Liam, courtesy of the Fondation Sanfilippo Suisse.

This disease is classified as a lysosomal storage disorder and is divided into four subtypes (MPS III A, B, C and D). A genetic variation of the sequence coding for an enzyme results in an inability to properly break down heparan sulfate leading to its accumulation in cells and tissues. Consequently, the affected children face severe cognitive decline, seizures, movement and multiple organs disorders and ultimately death around their early teens.

Albeit important research efforts, no treatment is approved to date. Interventions intended to repair mutated gene(s) causing the syndrome, or to replace defective enzymes are being explored. Researchers also investigate drugs capable of restoring the normal functioning of patient's nervous cells to attenuate or remove the disease's symptoms. Finding these drugs is however a tenuous and lengthy process.


The Swiss Data Science Center is collaborating with theFondation Sanfilippo Suisse based in Geneva to further accelerate the discovery and approval of treatment against this disease. The main objectives of this collaboration are:

  • Build a deep learning framework to characterize and predict associations between human diseases and the drugs approved to treat them.
  • Generate a list of candidate drugs to repurpose for the treatment of the Sanfilippo syndrome, from a large pool drugs initially indicated against other diseases.
  • Refine this list by incorporating feedback from experts, before further validation by lab testing.  


A systematic screening of approved drugs susceptible to affect the Sanfilippo disease's causes or symptoms will greatly accelerate the development of a treatment. Repurposed drugs are subject to faster clinical research cycles relative to newly developed drugs, decreasing both the time and money needed to make them accessible to affected children.


We thank Fondation Sanfilippo Suisse for the provided funding and the scientific  expertise and guidance provided by Nicolas Lantz of the Fondation’s Scientific Committee that moves forward this project to obtain first results and drug candidates for further testing in MPS III context by mid 2024.


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