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 for a research project that
aims to further understand the behavioural difficulties experienced by children
with Sanfilippo 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
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.
- 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