Cure Sanfilippo Foundation has funded New York-based Phoenix Nest, Inc. The funding supports creation of plasmid and the required in-vivo efficacy study in the Sanfilippo Type C (MPS IIIC) mouse model.
These and other steps will enable the project to be evaluated by the U.S. Food and Drug Administration (FDA) for approval to proceed with a first-ever gene therapy clinical trial for MPS IIIC. The goal is to bring forward the first-ever gene therapy clinical trial for Sanfilippo syndrome (MPS III) type C with the hope of providing relief to children suffering from Sanfilippo syndrome.
Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare genetic disease that has devastating effects on the central nervous system. Approximately 1 in 70,000 children are born with this inherited, yet initially invisible, condition. Those with the disease lack an enzyme that breaks down large sugar molecules. Those molecules accumulate in their cells, causing a cascade of damaging effects in the brain and body. What follows is the loss of critical brain tissue, vision and hearing impairment and ultimately dementia. The effects of Sanfilippo syndrome typically become apparent in the pre-school years of life. Tragically, there is no FDA-approved therapy available today to stop the rapid neurological deterioration, suffering, and death for these helpless children. Sanfilippo is sometimes referred to as “childhood Alzheimer’s.”
Grant Name: Creation of plasmid and efficacy study for MPS IIIC clinical trial
Organization: Phoenix Nest Inc.
Date: May 2020