Our science is strong
 

The epalrestat treatment has worked for a few.
We are ready to prove that it will work for many.

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”If the results are anything like those seen with Maggie and two separate one-person trials in Canada,the next step would be to test epalrestat in other glycosylation disorders.”

Holly Carmichael

Founder and COO

Maggie’sPearl

PMM2-CDG, or phosphomannomutase-2-congenital disorder of glycosylation — is caused by mutations in a gene that supplies the instructions for making the PMM2 enzyme, which is involved in a process known as glycosylation. In that process, sugar chains  are created, altered and chemically attached to specific proteins to form glycoproteins. Those proteins are key to normal growth and function of tissues and organs.

 

Maggie's Pearl is the culmination of the core vision of Perlara to create joint ventures with highly motivated families or foundations that could co-develop a medicine together.

 

By January 2020, Maggie herself pioneered a one-person trial of the daily pill, called epalrestat, under the supervision of the Mayo Clinic in Rochester, Minnesota. Now entering its third year, the results continue to be very encouraging. In a Fall 2021 publication in the Annals of Neurology that is co-authored by 26 researchers, including members of the Frontiers of CDG Consortium, we showed that Maggie's pioneer study led to the discovery of a novel disease severity biomarker that is now part of our Phase III primary endpoint.

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Learn more about the science

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G3
Journal

 

Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation

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Disease Models
& Mechanisms

 

Repurposing epalrestat for the
congenital disorder of glycosylation PMM2-CDG

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Annals
of Neurology

 

Sorbitol is a severity biomarker for PMM2-CDGwith therapeutic implications

"Our hypothesis is that epalrestat restores productive, balanced flux of sugars to impoverished metabolic and glycosylation pathways. Multiple independent labs are now working on how exactly epalrestat works in PMM2-CDG as well as other CDGs."

Ethan Perlstein, PhD

Co-founder and CEO, Maggie’s Pearl

Founder and CEO, Perlara

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Families

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

Partners

 

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

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Phase III epalrestat trial begins soon…