Multiple Sulfatase Deficiency Action Foundation announces partnership with Perlara PBC, San Francisco, California, April 9, 2018
(An extract from Perlara’s website)
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 62 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.”
Update expected in late 2018.