SAN FRANCISCO, Calif., Sept. 6, 2018 /PRNewswire/ -- Perlara, a rare disease therapeutics platform company partnering with highly motivated families, organizations and researchers, today announced a Mucopolysaccharidosis Type IIIA and Type IIIB PerlQuest partnership with Cure Sanfilippo Foundation, a South Carolina-based 501(c)(3) not-for-profit organization funding research to develop treatments and a cure for Sanfilippo Syndrome.
Sanfilippo Syndrome comprises a group of four related lysosomal diseases called Mucopolysaccharidosis Types IIIA-D, affecting 1 in 70,000 children. MPSIIIA and MPSIIIB are the more common types and are caused by loss-of-function mutations in genes encoding sulfatase enzymes that degrade the complex sugar molecule heparan sulfate in lysosomes of each cell of the body. MPSIIIA is caused by deficiency of the evolutionarily conserved enzyme heparan sulfatase (SGSH). MPSIIIB is caused by deficiency of the evolutionarily conserved enzyme acid N-alpha acetylglucosaminidase (NAGLU). Sanfilippo Syndrome is a progressive, neurodegenerative and fatal metabolic childhood disorder with no FDA approved therapy.
In Stage One of the Sanfilippo PerlQuests, Perlara will engineer, phenotype and adapt MPSIIIA and MPSIIIB nematode and fly disease models to our screening pipeline. The Microsource Spectrum collection will be used in the screening process to identify repurposable approved drugs and GRAS (generally recognized as safe) compounds that rescue disease phenotypes in the newly created model organisms.
"We're excited for the opportunity to work with the Cure Sanfilippo Foundation and CSF families and researchers," says Perlara founder and CEO Ethan Perlstein, PhD. "We look forward to screening MPSIIIA and MPSIIIB worm and fly patient avatars in order to identify clinically actionable small molecules within the next 12 months. These repurposing efforts will build the foundation for drug discovery of novel chemical matter and new drug targets for Sanfilippo and related neurodegenerative diseases."
"The opportunity to speed the time from drug discovery to patient access through Perlara's screening platform is something we are thrilled to support," says Cure Sanfilippo Foundation's CSO Cara O'Neill, MD. "Neurodegeneration in Sanfilippo syndrome is relentless and brutal. With children losing ground to this disease every day we have to keep moving forward in efficient and innovative ways. We are hopeful that our PerlQuests will bring us ever closer to help for patients with Sanfilippo syndrome."
About Perlara PBC
Perlara is the first biotech public benefit corporation (bioPBC) that discovers cures for rare diseases and learns how genes work across diseases to map connections to common ailments. Perlara embarks on journeys of scientific discovery and drug development called PerlQuests™ with families, patient organizations and BioPharma and clinical partners. The PerlArk™ Platform creates disease models using simple animals that share genetic similarity with humans, allowing screening of massive numbers of disease models and drug candidates quickly and at low cost.
Cure Sanfilippo Foundation is a 501(c)(3) non-profit organization dedicated to the development of treatments and a cure for Sanfilippo Syndrome (MPS III). Sanfilippo Syndrome is a terminal, neurodegenerative disease caused by a genetic enzyme deficiency which leads to early dementia and typically death in childhood. CSF collaborates with families, scientists and industry partners from around the world to advocate for and fund critical medical research and tools to advance drug development. Where there is Action, there is Hope.