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Maggie’s Pearl


Maggie’s Cure partners with Perlara, and a treatment candidate emerges. 


In 2017 Maggie’s Cure began work with Ethan Perlstein, founder of Perlara, the first biotech public benefit corporation focused on partnering with families to find treatments for rare genetic diseases. Perlara’s approach was to gather insights from under-used yeast, worm and fruit fly models as well as skin cells from rare disease patients to point researchers toward repurposed drugs that would treat and improve the lives of PMM2-CDG patients. The models were built and used for high-throughput screening of known drugs. A “hit” was landed in a Japanese drug called epalrestat – a drug used to treat nerve damage in adults with diabetes for decades in Asia.  The fibroblasts (cells taken from a tissue sample from a patient with PMM2-CDG’s forearm) were tested with epalrestat and PMM2 enzymatic activity increased.

Compassionate treatment with epalrestat in one patient with PMM2-CDG.


Approval was obtained from the FDA to start a single-patient compassionate use investigational new drug (IND) trial and treatment was started in January 2020. Improvements were noted in gross motor, stability and strength and laboratory results.  

Maggie’s Pearl origins


Maggie’s Cure LLC was started by the parents of a child with a rare genetic disease called PMM2-CDG or Congenital Disorder of Glycosylation Type 1a that roughly 1,000 people in the world are known to have. Maggie’s Cure, LLC  is committed to improving the quality of life of children with PMM2-CDG.


Maggie’s Pearl, LLC (MP) is born.


In August 2020 Maggie's Pearl LLC (MP) was formed as a joint venture between Perlara and Maggie’s Cure and the Mayo Clinic. MP got the green light in December 2021 from the Food and Drug Administration to begin a Phase III clinical trial in 40 patients with PMM2-CDG.

Phase III epalrestat trial is fully enrolled.



Want to learn more about the PMM2-CDG clinical trial or our ongoing CDG research?



Would you like to become one of our research or clinical collaborators?

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