Perlara, a global patient portal and drug discovery platform company for the one in 10 families affected by rare disease, has announced the formation of a PerlQuest partnership with Michigan-based Maggie's PMM2-CDG Cure. PMM2-CDG, formerly known as congenital disorder of glycosylation type 1a, is caused by mutations in the evolutionarily conserved gene PMM2. There are currently no FDA approved treatments for PMM2-CDG.
PMM2 encodes phosphomannomutase in humans, the enzyme that converts mannose-6-phosphate to mannose-1-phosphate, the first biosynthetic step in N-linked glycosylation. The PMM2 amino acid sequence is conserved across the animal kingdom. Fly, nematode and yeast orthologs are on average 55% identical to PMM2. Almost all PMM2-CDG missense mutations alter amino acids that are 100% conserved from yeast to humans.
"Like so many rare disease organizations, Maggie's PMM2-CDG Cure is family-driven and a force of nature," said Ethan Perlstein, Ph.D., CEO of Perlara. "We will develop the first invertebrate (yeast, nematode, fly) drug-screening pipeline for PMM2-CDG in three phases of research with the goal of discovering lead compounds with pharmaceutical properties suitable for cost-effective safety and efficacy studies in the recently described Pmm2R137H/F115L mouse model."
"We couldn't be more excited to be working with a true innovator in Perlara," said Holly and Dan Carmichael, founders of Maggie's PMM2-CDG Cure. "Their dedication and devotion to work with families to find cures was evident on our first call. Our daughter, Maggie, has an amazing spirit and is working hard—be it in physical therapy or in her school—on a daily basis. As parents we feel we owe it to her to do whatever we can to find a treatment and we are overjoyed to be working with Perlara on Maggie's journey."
Earlier this month, Perlara announced its first two PerlQuest partnerships. There are currently a total of six disease programs at the company. Next month, Perlara relocates from its home of the last three years in the biotech incubator QB3@953 to a newly constructed, 13,000+ sq. ft. lab and office space in South San Francisco, the birthplace of biotechnology.