The Sanfilippo Children’s Foundation, in Australia, has awarded AU$355,000 (about USD$267,000) for a two-year project to determine whether medicines targeting the immune system could be used to treat children with Sanfilippo syndrome.
Researchers will use the grant to screen medicinal compounds for their ability to prevent cell degeneration and cognitive decline. These compounds will be tested in a mouse model of Sanfilippo A, by injecting them either into the bloodstream or directly into the cerebrospinal fluid — the liquid that surrounds the brain and spinal cord.
Successful therapies may open new avenues for research in treating the disorder.
“This project will help to develop a greater understanding of the role of the immune system in Sanfilippo and identify potential therapeutic avenues,” Megan Donnell, the Foundation’s executive director, said in a press release.
“By limiting the level of inflammation in the brain, it may be possible to slow down the cognitive decline experienced by children with Sanfilippo and improve their quality of life,” Donnell said.
The scientists leading the project are Kim Hemsley, PhD, of Flinders University, and Marten Snel, PhD, of the South Australian Health and Medical Research Institute (SAHMRI).
Hemsley is the head of the Childhood Dementia Research Group, which she helped to establish. She has studied Sanfilippo for more than 16 years, and the work she and her colleagues have done has resulted in several ongoing Sanfilippo gene therapy clinical trials.
Snel, who heads the Proteomics, Metabolomics and MS-Imaging Facility at SAHMRI, has collaborated extensively with Sanfilippo researchers throughout Australia and is recognized internationally for his work involving mass spectrometry. Mass spectrometry is a powerful analytic technique that allows researchers to identify unknown, or known, compounds by determining their molecular weight.
He helped to develop a test for heparan sulfate, which could potentially become a diagnostic and prognostic tool for Sanfilippo.
Heparan sulfate builds up in brain cells and other tissues when mutations in the enzymes needed to break it down cause these enzymes to malfunction. The resulting damage to nerve cells leads to the progressive neurodegeneration observed in Sanfilippo.
The effects of neurodegeneration are seen in mental and behavioral symptoms associated with the syndrome. These include delayed development, aggression, hyperactivity, language difficulties, and sleep disturbances.
The Sanfilippo Children’s Foundation has provided funding for several other investigations this year. Projects include developing nanoparticle drug delivery systems, understanding how Sanfilippo affects the lungs, and targeting autophagy, the cellular recycling process. The Foundation also provides funding for PhD scholarships.
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