Research into attenuated forms of Sanfilippo Syndrome has been given a boost with recent funding to the Sanfilippo Children’s Foundation from generous trusts and foundations.
The grants allow researchers to collect, process and store cells from patients with attenuated Sanfilippo. These cells can be used in the Brain in a Dish study currently underway in Adelaide, Australia, and other research projects in Australia and around the world.
Sanfilippo can take a slower-progressing course in some individuals, referred to as an attenuated form of Sanfilippo. This form can occur in all four Sanfilippo subtypes, driven by four different genes. While patients with attenuated Sanfilippo may survive into their forties or fifties, they still experience the usual symptoms of Sanfilippo, including sleep disturbances, loss of language and skills, and cognitive decline. Although slower to progress, attenuated Sanfilippo remains a terminal illness with a huge impact on the whole family.
Research into Sanfilippo is steadily growing, with several clinical trials underway today. However, attenuated patients and their families are often neglected in research funding and are excluded from clinical trials.
The new funding will allow research into attenuated Sanfilippo using cells grown from attenuated patients’ skin samples. The research team conducting the Brain in A Dish project will use their existing processes and infrastructure to collect, process and grow the cells from attenuated patients.
Once grown in the lab, cells will be ready for use in the Brain in a Dish program and other research projects. The Brain in a Dish program, supported by the Medical Research Future Fund and Sanfilippo Children’s Foundation, may use the cells to conduct high-throughput drug screening. This program aims to identify new or existing drugs that could provide a personalised treatment approach for individual patients. Other projects may use the cells to understand the disease mechanisms in attenuated Sanfilippo.
This work will mark a new era in attenuated Sanfilippo research, hoping to drive research to find therapies for attenuated forms more quickly. Placing a greater focus on attenuated Sanfilippo will lead to better outcomes for attenuated patients, their families, and ultimately all patients with Sanfilippo.