Perlara announces Leigh syndrome PerlQuest partnership with Radical Investments

San Francisco, California, November 14, 2018

Perlara, the rare diseases platform company that partners with highly motivated families, organizations and researchers to cure rare genetic diseases, today announced a Leigh syndrome PerlQuest pact with Radical Investments LP. Radical Investments is the venture capital firm of serial entrepreneur and impact investor Mark Cuban.

Leigh syndrome is a progressive neurometabolic disorder that comprises the largest group of mitochondrial diseases. The incidence is an estimated 1 in 36,000-40,000 live births. Inherited or spontaneous mutations in at least 25 different genes can cause Leigh syndrome, which presents in the first years of life and has a poor prognosis. Although a “mitochondrial cocktail” is widely used by patients it is not standardized, and there is currently no FDA approved treatment for Leigh syndrome.

Perlara will engineer, phenotype and adapt yeast, nematode and fly disease models of Leigh syndrome for automated drug screening. A drug repurposing library will be screened to identify approved drugs and GRAS (generally recognized as safe) compounds that rescue disease phenotypes in the newly created model organisms. Perlara will rapidly advance promising repurposable assets to n-of-1 clinical trials. In parallel, a much larger drug discovery library will be screened to identify novel lead compounds that will be starting points for second-generation, first-in-class clinical candidates.

“For 95% of rare disease families, and in particular ultra-rare disease families, the number one roadblock to finding a cure is lack of funds,” says Perlara founder and CEO Ethan Perlstein, PhD. “Unless a family happens to be well off or well connected, they can’t raise money fast enough to move the needle. The purpose of this first experiment with Radical Investments is to create a template for sustainably funding rare disease drug discovery when the science is compelling and the unmet need is huge, and for ensuring that the resulting specialty drugs are priced affordably.”

“We’re initially focusing on drug repurposing and drug discovery using already published and validated Leigh syndrome models, but the plan is to build and then screen new foundational models spanning complex I-VI deficiencies, including mitochondrial genome mutations like mt3688 and mt9176, and mutations in the nuclear encoded gene SURF1,” says Perlara Director of R&D Nina DiPrimio, PhD.

“Families affected by rare disease are ready to move mountains, but they lack the financial resources to do so,” says Mark Cuban. “A new treatment for Leigh syndrome could have broader implications for aging, sports medicine, traumatic brain injury, neurodegeneration and other indications. We also will work to significantly reduce the pricing of all orphan drugs we invest in. We strongly believe that corporations can and should have a social conscience.”

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.

For general information, visit

About Radical Investments LP

Radical Investments is the investment vehicle of serial entrepreneur and impact investor Mark Cuban.

For more information, visit

Media Contacts

For all inquires: Karen Herzog,, 415-347-8493, @PerlaraPBC

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