Cure Sanfilippo Foundation Partners with Perlara to Identify, Develop New Treatments

Perlara and the Cure Sanfilippo Foundation are collaborating on an initative called Sanfilippo PerlQuests to identify new disease targets and develop treatments for patients with Sanfilippo syndrome.

“We’re excited for the opportunity to work with the Cure Sanfilippo Foundation and CSF families and researchers,” Ethan Perlstein, PhD, the founder and CEO of Perlara, said in a press release.

Sanfilippo syndrome, or mucopolysaccharidosis type III (MPS III), is a progressive, neurodegenerative condition that affects children and is caused by genetic mutations that result in the deficiency of specific enzymes, leading to the accumulation of a toxic sugar molecule in the brain called heparan sulfate.

There are four types of Sanfilippo syndrome — A, B, C, and D, each corresponding to the deficiency of a specific enzyme. Sanfilippo types A and B are the most common sub-types.

PerlQuest is Perlara’s drug discovery journey that starts with developing disease models that can be used to test the therapeutic potential of treatment candidates.

In the first stage of this collaboration, Perlara’s researchers will engineer roundworms (nematodes) and flies to carry the specific mutations for MPS IIIA and MPS IIIB, and select the ones that exhibit disease-specific symptoms.

Nematodes and fly genomes can be closely linked to the human genome, and often serve as model systems. These organisms will then be used to test the effectiveness of experimental agents in the following stages of Sanfilippo PerlQuest.

“We look forward to screening MPS IIIA and MPS IIIB worm and fly patient avatars in order to identify clinically actionable small molecules within the next 12 months,” Perlstein said.

Perlara’s drug discovery platform aims to repurpose existing drugs that are approved for other conditions, and treatment candidates that are generally recognized as safe (GRAS) compounds.

Sanfilippo PerlQuest will screen for such compounds in an extensive database called the MicroSource Spectrum Collection to accelerate the identification of viable candidates for Sanfilippo syndrome treatment.

“These repurposing efforts will build the foundation for drug discovery of novel chemical matter and new drug targets for Sanfilippo and related neurodegenerative diseases,” Perlstein added.

Cure Sanfilippo Foundation appreciated the approach of Perlara’s drug discovery platform, called PerlArk, to identify a viable treatment candidate as part of Sanfilippo PerlQuest that could potentially help Sanfilippo patients.

“The opportunity to speed the time from drug discovery to patient access through Perlara’s screening platform is something we are thrilled to support,” said Cara O’Neill, MD, the chief scientific officer of Cure Sanfilippo Foundation.

“We are hopeful that our PerlQuests will bring us ever closer to help for patients with Sanfilippo syndrome,” she added.

The progress of this collaboration can be followed here. In addition to Sanfilippo syndrome types A and B, there are ongoing PerQuests for other rare conditions, such as Niemann-Pick Type A.