The epalrestat treatment has shown some positive effects in a few children treated on a compassionate basis.
We are currently conducting a clinical trial to see if epalrestat is safe and effective in up to 40 children with PMM2-CDG.
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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"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