Perlara announces partnership with Multiple Sulfatase Deficiency Action Foundation
Published: Apr 09, 2018
SAN FRANCISCO, April 9, 2018 /PRNewswire/ -- Perlara, a drug discovery platform company partnering with highly motivated families and drug developers to cure diseases thought too rare to matter, today announced a PerlQuest partnership with MSD Action Foundation (MSDAF), a research-focused charity based in Ireland. Multiple Sulfatase Deficiency (MSD) is an ultra-rare monogenic lysosomal disorder caused by mutations in the evolutionarily conserved gene SUMF1. MSD Action Foundation is aware of 54 living patients worldwide that are affected but the actual number is thought to be much higher. There are currently no approved treatments for MSD.
SUMF1 encodes a protein called sulfatase-modifying factor 1 - also known as formylglycine-generating enzyme (FGE) - that activates all sulfatase enzymes. The functional equivalent of SUMF1 exists in the model organism Drosophila melanogaster, but the fly homolog is uncharacterized. In Stage One of the PerlQuest, Perlara will complete a natural history study of fly avatars engineered to express patient-derived SUMF1 mutations. The goal is to discover phenotypes amenable for high-throughput drug repurposing and drug discovery screens.
"Multiple Sulfatase Deficiency has been on our radar for a few years since a Wisconsin family contacted me in 2015 asking if there was a way to help move MSD research forward," says Perlara founder and CEO Ethan Perlstein, PhD. "In January 2016 that family introduced me to Alan Finglas, founder of MSDAF. We're excited to develop the first MSD fly models with our partner MSDAF, which has embarked on the therapeutic odyssey with remarkable speed and efficiency. What's more, MSD fly models can be 'multi-purposed' to impact the family of single sulfatase deficiencies, or mucopolysaccharidoses (MPS)."
"We are absolutely thrilled and excited about the prospects that the new MSD fly models will bring," says MSDAF founder Alan Finglas. "It is evident that Perlara have wonderful facilities and expertise and we believe that they will be successful in creating a very good sceenotype fly model that can then be used for drug screening purposes. As the normal life cycle of the fruit fly is just 45 days, drug hits can be validated quickly. We hope to be able to move forward with further studies to repurpose or develop a viable treatment for MSD patients. I am sure a number of MPS conditions can also be impacted by these multi-purpose models as some of their sulfatases/enzymes are also affected in MSD."
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 Perlara Drug Discovery 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 www.perlara.com.
For specific information about MSD, please visit www.SavingDylan.com or www.facebook.com/SavingDylanFinglas. MSD Action Foundation and SavingDylan.com are one in the same and their goal is to promote and support research that will lead to positive clinical outcomes and quality of life for patients suffering from MSD.
CONTACT: For all inquires: Ethan Perlstein, firstname.lastname@example.org, 415-347-8493, @PerlaraPBC (https://twitter.com/PerlaraPBC)
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