RARE Daily

Perlara and Patient Group Partner on Development of Therapy for SCN2A Related Disorders

June 7, 2023

Rare Daily Staff

The SCN2A Foundation said it has entered a partnership with biotech Perlara to develop a therapy for SCN2A-related disorders, a group of neurodevelopmental disorders.

SCN2A is a gene that helps regulate the central nervous system. Malfunctions in this gene can cause complex and deadly symptoms relating to autism and epilepsy that are difficult to treat with general antiepileptic medications. The loss of function aspect of the SCN2A disease has seen limited exposure and The SCN2A Foundation is dedicated to ramping up therapeutic development for this side of the disease across several fronts.

The partnership started after Jason Curry, founder of SCN2A Foundation, reached out to Perlara founder Ethan Perlstein after learning about work the company was doing with Maggie’s Pearl, a joint venture between Perlara, Maggie’s Cure, and the Mayo Clinic to repurpose a treatment for the rare metabolic condition phosphomannomutase-2-congenital disorder of glycosylation. It is currently in a phase 3 clinical trial.

“Jason reached out to us based on our work with Maggie’s Pearl, and after talking with him and his wife, we felt like we could help,” said Ethan Perlstein, founder and CEO of Perlara. “The drug development journey can be challenging, which is why we began systemizing the discovery process through our Guided Cures process.”

To kick off this partnership, The SCN2A Foundation’s Curry is embarking Pennsylvania bike ride from Pittsburgh to Philadelphia to raise funds for and promote the group’s participation in the University of Pennsylvania’s Orphan Disease Center Million Dollar Bike Ride.

Photo: Ethan Perlstein, founder and CEO of Perlara

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