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Press Release

Phase III epalrestat clinical trial to evaluate safety, tolerability, and clinical and metabolic improvement of pediatric subjects with PMM2-CDG

STURGIS, Mich., Jan. 9, 2023 — Maggie's Pearl, a collaboration between Perlara, Maggie's Cure, and the Mayo Clinic, has started a Phase III clinical treatment trial to evaluate safety, tolerability, and clinical and metabolic improvement of pediatric subjects with PMM2-CDG (formerly known as Congenital Disorder of Glycosylation Type 1a) on oral epalrestat therapy versus a placebo. Administered by the Mayo Clinic, the clinical trial is a prospective, single-center, randomized, double-blind, placebo-controlled study. Maggie's Pearl received Food and Drug Administration approval in December 2021 to begin the Phase III clinical trial in 40 patients with PMM2-CDG. Now, the study is actively recruiting, and the first two study subjects were dosed in December 2022.

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.

"This trial is the culmination of five years of research attempting to identify a new treatment option for pediatric PMM2-CDG," said Ethan Perlstein, CEO of Maggie's Pearl. "The start of this trial is an inflection point in our research. If this study demonstrates epalrestat to be safe and effective, families could finally have a viable treatment option for children living with PMM2-CDG."

The primary study objective is to evaluate the safety and probable benefit of oral epalrestat therapy in pediatric subjects with PMM2-CDG. Study outcomes include evaluating the metabolic improvement of pediatric subjects treated with oral epalrestat therapy compared to those receiving the placebo. Additional areas of evaluation are safety, clinical improvement, and pharmacokinetics (PK) of oral epalrestat therapy, as well as urine polyols, adverse events, laboratory data, and other measures.

To learn more about the trial, visit:

About Maggie's Pearl


Established in August 2020, Maggie's Pearl LLC is a joint venture between Perlara, Maggie's Cure, and the Mayo Clinic to identify potential drug therapies to treat and improve the lives of PMM2-CDG patients. Maggie's Pearl was inspired by Maggie Carmichael, a nine-year-old girl from Sturgis, Michigan, who was diagnosed with PMM2-CDG at eight months of age. At the time of her diagnosis, Maggie's parents were told there was no treatment for their daughter's rare, and potentially fatal, genetic disease. There are roughly 1,000 people in the world known to have PMM2-CDG. To learn more about Maggie's Pearl, visit:


Pete Johnson

(415) 806-7060

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