Therapeutic strategies for the treatment of behavioural symptoms

The Sanfilippo Children’s Foundation and Cure Sanfilippo Foundation in the USA have awarded funds to Dr Elvira De Leonibus at the Telethon Institute of Genetics and Medicine (TIGEM) in Italy. The research project aims to understand the behavioural difficulties experienced by children with Sanfilippo further and test potential therapies.

“Children with Sanfilippo typically have behavioural issues, such as hyperactivity, sleep disturbance, anxiety and aggression. Effective therapies are desperately needed because these behavioural issues are often so extreme that they dramatically impact the child and their family’s quality of life,” said Megan Donnell, Executive Director of the Sanfilippo Children’s Foundation. 

Although there has been little research in this area, doctors often prescribe medication that is normally given for Autism or psychosis. However, they are usually ineffective for children with Sanfilippo and often cause more side effects. Dr De Leonibus has previously studied mice with Sanfilippo Type A and characterised the chemical imbalance in their brains that causes their behavioural symptoms.

In this project, the researchers will treat the mice with an already approved drug used to treat ADHD and another new drug that has shown promise for Parkinson’s disease in mouse models. They will test whether these drugs can help restore the chemical balance in the brains of the mice and improve their behaviour.

Dr. Cara O'Neill, Scientific Director of the Cure Sanfilippo Foundation, said: "In addition to studying the behavioural and biochemical effects of a known class of drugs in Sanfilippo, Dr De Leonibus' work will explore the ability of a new drug to protect critical brain pathways and nerve cells. Insight into how to protect children's brains from the secondary damage caused by Sanfilippo is incredibly valuable to those suffering today."

If an effective treatment were to be found, it would be of enormous psychological, social and economic benefit, to patients and their families and could be used alongside other therapies being developed such as enzyme and gene replacement therapies.


Dr De Leonibus is Faculty and Head of the behavioural core at TIGEM and is Group Leader of the Lab of Neuropsychopharmacology at the Institute of Neurobiology and Cellular Biology (IBCN). She has been working in the field of lysosomal storage disorders for more than 10 years with the ultimate goal of finding treatments for the behavioural problems in these conditions.

Project Summary 

  • Chief investigator: Dr Elvira De Leonibus
  • Project title: New therapeutic strategies for the treatment of behavioural symptoms in MPS-IIIA
  • Amount: $45K with Cure Sanfilippo Foundation contributing a further $45K
  • Duration: 1 year
  • Location: Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy
  • Status: Active
  • Start date: March 2019

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