Phoenix Nest Announces New NIH Grant for Sanfilippo Syndrome (MPSIIIC)

New York – The Eunice Kennedy Shriver National Institute of Child Health and Human Development at the National Institutes of Health (NIH) recently awarded $224,873 in grant funding to Phoenix Nest, Inc. and University of California San Diego to perform structure-based optimization of a novel pharmacological chaperone therapy for MPSIIIC.

Sanfilippo syndrome (MPS III) is a progressive neurological disorder that is generally diagnosed in childhood and can lead to premature death. The new grant aims to optimize a small molecule as a potential chaperone for MPS III types C. This disorder is caused by deficiency of the enzyme heparan sulfate acetyl CoA: a-glucosaminide N-acetyltransferase (HGSNAT), which is essential for degradation of heparan sulfate. Currently there is no specific treatment for MPS III.

The disease is an excellent candidate for small molecule chaperone therapy as well as gene therapy. The team recently identified promising compounds and the goal of this grant is to resolve the tertiary structure of HGSNAT and use that information to direct the synthesis of potent inhibitors/chaperones of HGSNAT. Compounds identified in this study will provide leads for future optimization. This will leverage the vast X-ray crystallography experience of Professor Geoffrey Chang (Skaggs School of Pharmacy and Pharmaceutical Sciences and the Department of Pharmacology at University of California San Diego), extensive pharmaceutical medicinal chemistry experience of Dr. Joel Freundlich (Rutgers University) and extensive MPSIIIC biology expertise of Dr. Alexey Pshezhetsky (CHU Ste-Justine) and Phoenix Nest’s drug discovery knowledge.

“I am very excited about collaborating on this Sanfilippo syndrome IIIC project, as my laboratory develops innovative techniques for overcoming the challenges of producing and crystallizing integral membrane proteins suitable for biophysical analysis,” said Professor Geoffrey Chang.

“Our research to date has used traditional medicinal chemistry concepts to improve the activity of our compounds and we would benefit if we knew how and where they were binding to this enzyme,” said Dr. Sean Ekins, CEO of Phoenix Nest, Inc. “Having a structure would help us perform structure-based drug design.”

“Years of effort by our scientists and families have brought us to this point,” said Jill Wood, Co-Founder and Chief Financial Officer, Phoenix Nest. “We are grateful to the NIH for their continued support for this ultra-rare disease, as it provides a ray of light for the many families and their children that struggle with this everyday. It is our goal to raise awareness and provide treatments and we will continue to be at the forefront of recruiting world-class scientists to help us in our quest.”

About Phoenix Nest, Inc. -Phoenix Nest, Inc. is a biotechnology company focused on Sanfilippo Syndrome founded by and solely owned by several Sanfilippo Syndrome families. They actively collaborate with academic researchers to fund and commercialize their technologies. Phoenix Nest, Inc. also licenses assets from companies and universities that may have utility for Sanfilippo Syndrome. For more information, please visit

For further information, please contact Jill Wood, Co-Founder and Chief Financial Officer, Phoenix Nest, 347-689-2186