Epalrestat
 

The epalrestat treatment has shown some positive effects in a few children treated on a compassionate basis.

 

We are ready to start a clinical trial to see if epalrestat is safe and effective  in up to 40 children with PMM2-CDG.  

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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.

 

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, data from the first pediatric patient treated with epalrestat in the US was discussed.

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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-CDG with 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…