Cure Sanfilippo Foundation has granted $380,000 to the New York-based biotechnology company Phoenix Nest to support the development of the first-ever gene therapy to treat children with the rare genetic neurodegenerative disease Sanfilippo syndrome type C.
The funds will back the development of therapy components as well as a preclinical in vivo study in a Sanfilippo mouse model in advance of clinical trials in humans.
“Fundraising for an ultra-rare disease is difficult, made even more so during these uncertain times,” said Jill Wood, president of Phoenix Nest, in a press release. “We can’t thank the generous supporters of Cure Sanfilippo Foundation enough.”
“Not only will this funding contribute to our Investigational New Drug (IND) enabling studies but hopefully will act as seed funding for future investors,” she added.
Wood, the parent of an 11-year-old son with Sanfilippo syndrome type C, has generated much of the support by advocating for patients and parents for the past 10 years.
Sanfilippo syndrome type C, also called mucopolysaccharidosis type 3 C (MPS 3C), is caused by mutations in a gene known as HGSNAT, which provides the instructions for making an enzyme necessary for the degradation of a large sugar molecule called heparan sulfate.
In children with HGSNAT mutations, toxic levels of heparan sulfate build up, causing damage primarily to the nervous system. The proposed gene therapy will deliver a correct copy of the HGSNAT gene replacing the defective gene.
Phoenix Nest’s strategy will be to insert the correct gene into a circular piece of DNA called a plasmid, which will then be delivered by a harmless, inactivated adeno-associated virus (AAV) to the affected area in the brains of mice specially bred to mimic the condition.
Previous preclinical findings have shown that the AAV vector the company intends to use, called AAV-TT, could deliver a functional, human HGSNAT gene into the central nervous system (brain and spinal cord) of a mouse model of Sanfilippo syndrome type C. The therapy also could effectively correct animals’ behavior.
Additional preclinical positive results will further support testing the therapy in humans with the disease.
Cure Sanfilippo Foundation is a nonprofit organization that advocates and funds research to find treatments or a cure for Sanfilippo syndrome. So far, the foundation has funded 25 research programs leading to three clinical trials.
“Today is a very uplifting and inspiring day. It is because of the incredibly hard work and grassroot efforts of the parents and supporters of children with Sanfilippo syndrome type C from around the world that we are able to help move this research forward,” said Glenn O’Neill, president of Cure Sanfilippo. “I have seen firsthand how families do everything possible to save the children they love,” she said.
“We have more work ahead, and we must continue the momentum to help bring this to a clinical trial for children with Sanfilippo syndrome type C, as soon as possible.”
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