Since its inception in 2009, Team Sanfilippo Foundation has awarded nearly a half million dollars in research grants (Appendix I) through funds obtained from charitable contributions, corporate donations, and awards such as the 2011 Pepsi Refresh Challenge.
In 2010, Team Sanfilippo formulated a strategic plan which focused upon discovering potential therapeutics that could be tested clinically within three to five years. Recent scientific advancement in the areas of enzyme replacement, gene therapy, and small molecules has led to the initiation of clinical programs for Sanfilippo and other lysosomal storage diseases. These potential therapies may hold promise for arresting disease progression or even provide a cure if administered prior to symptomatic disease onset.
For symptomatic children, however, with manifestations of advanced disease, these emerging therapies may offer only limited benefit. Therefore, for 2012, Team Sanfilippo is seeking research proposals focusing upon advancing the scientific understanding of the neuropathological changes that occur in MPSIII and potential mechanisms for restoring neuroplasticity and neurogenesis once disease progression has occurred. Of specific interest will be proposals that examine synergistic interactions with emerging therapies.
Research topics under consideration may include but are not limited to:
- Emerging therapies. To what extent can emerging therapies (gene therapy, ERT, small molecule GAG modifiers) be optimized for symptomatic patients.
- Gene regulation. Which genes are up and down regulated as MPSIII progresses? Could switching on or off these genes provide therapeutic benefit? Examples: Angelman’s syndrome and topotecan.
- Hippocampal neurogenesis. Work by Li et.al. (Neufeld lab, Journal of Neuroscience Research 69:30–38 (2002) indicates changes in FGF-2 and GFAP in MPSIIIB mice. Can these changes be reversed by therapeutic intervention?
- Non-GAG accumulations in MPSIII. Other potential neurotoxic substances than GAGs have been shown to accumulate in MPSIII. Are they neurotoxic, and would their reduction have therapeutic benefit in symptomatic patients.
- Lessons from other neuropathologies. Other neurodegenerative diseases may provide commonalities that could be targets for therapeutic intervention. How can we utilize other therapeutic successes for the benefit of Sanfilippo Syndrome?