The investigational Pompe disease treatment MZE001 has been granted Orphan Drug Designation by the US Food and Drug Administration (FDA). 

“We are pleased to have received this designation from the FDA for MZE001, which underscores the need for new, innovative treatments for Pompe disease,” said Jason Coloma, PhD, chief executive officer of Maze Therapeutics, the developers of the treatment, in a press release. “MZE001 is a novel mechanism we believe could be beneficial both as a monotherapy for late-onset patients as well as [a] complement to enzyme replacement therapies across the disease spectrum”.

MZE001 is an oral substrate reduction therapy that inhibits the glycogen synthase (GYS1) enzyme thereby reducing the buildup of glycogen. 

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Preclinical research has shown that MZE001 treatment was generally well tolerated in many animal models, causing no on- or off-target toxicity. It also reduced the accumulation of glycogen.

The treatment is currently in a phase 1 clinical trial. The double-blind, placebo-controlled, single ascending dose and multiple ascending dose trial is assessing the safety, tolerability, pharmacokinetics, pharmacodynamics, and food effect of the treatment in healthy volunteers.

Read more about the etiology of Pompe disease

According to Dr. Coloma, the trial is advancing well and the company is planning to share data from the study later in the year.

Orphan Drug Designation provides certain financial incentives to support the clinical development of a drug or biologic to treat a disease affecting fewer than 200,000 people in the US as well as up to 7 years of marketing exclusivity if approved.

Pompe disease is caused by a mutation in the gene encoding for the alpha-glucosidase enzyme (GAA), the normal function of which is to cleave glycogen to form glucose. The mutations cause the GAA enzyme not to function properly, which results in the buildup of glycogen inside tissues, causing damage.

Substrate reduction therapy aims to restore metabolic homeostasis by limiting the amount of substrate of an impaired enzyme to levels that can effectively be processed.


Maze Therapeutics announces FDA Orphan Drug Designation granted to MZE001 for the treatment of Pompe disease. News release. Maze Therapeutics; August 31, 2022.