Cure Sanfilippo Co-Funds Research Into Treating Behavioral Symptoms of MPS III

March 1, 2019
Dr Elvira De Leonibus at the Telethon Institute of Genetics and Medicine (TIGEM) in Italy

Cure Sanfilippo Foundation has again collaborated with Sanfilippo Children’s Foundation (Australia) to fund a new research project by Dr. Elvira De Leonibus at the Telethon Institute of Genetics and Medicine (TIGEM) in Italy. The research project aims to understand the behavioral difficulties experienced by children with Sanfilippo Syndrome (MPS III) further and to investigate new therapeutic strategies for the treatment of the behavioral symptoms.

Children with Sanfilippo Syndrome typically have behavioral issues, such as hyperactivity, sleep disturbance, anxiety, and aggression. Effective therapies are desperately needed because these behavioral issues are often so extreme that they dramatically impact the child and their family’s quality of life.

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 characterized the chemical imbalance in their brains that causes their behavioral 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 behavior.

In addition to studying the behavioral and biochemical effects of a known class of drugs in Sanfilippo Syndrome, 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,” said Dr. Cara O’Neill, Chief Science Officer for Cure Sanfilippo Foundation.

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.

TIGEM (Telethon Institute of Genetics and Medicine) is an international research institute dedicated to the discovery of the mechanisms underlying rare genetic diseases and the development of innovative therapies.

Dr. De Leonibus is Faculty and Head of the behavioral 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 behavioral problems in these conditions.

Project Summary

Duration: 1 year

Institution: Telethon Institute of Genetics and Medicine (TIGEM)

Location: Naples, Italy

Start date: March 2019

Project Update – June 2021

The researchers on this project recently published its findings, “Altered heparan sulfate metabolism during development triggers dopamine-dependent autistic-behaviours in models of lysosomal storage disorders,” in the June edition of Nature Communications.”

“This work sheds light on a critical but historically understudied area – mechanisms behind the autism-related behaviors common in Sanfilippo,” said Dr. Cara O’Neill, Chief Science Officer for Cure Sanfilippo Foundation. “It also offers directly translatable information for patients and their doctors searching for guidance on medications to address behavioral symptoms. We are honored to support this work and look forward to future studies from the team to understand and address defects in the dopamine system across the lifespan in Sanfilippo.”

The paper notes that the autistic behaviors seen in children with all types of MPS III (Sanfilippo syndrome, Types A, B, C, and D) also manifest in other MPS disorders which accumulate abnormal forms of heparan sulfate (MPS I-Hurler and MPS II-Hunter).

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