Shinogi and Maze secure global exclusive to treat Pompe disease

Shionogi has announced a significant agreement that reflects its commitment to expanding its efforts in the rare disease sector. The collaboration focuses on advancing a promising new treatment for Pompe disease, a rare and debilitating disorder.

Pompe disease, as described by the National Organization for Rare Disorders (NORD), varies in its rate of progression and the age at which symptoms first appear. It can manifest at any age from infancy to adulthood, with earlier onset typically leading to more rapid disease progression and increased severity. Symptoms of Pompe disease include skeletal muscle weakness, leading to mobility issues and respiratory complications.

Infants who are most severely affected by Pompe disease often show symptoms within the first three months of life. Classic infantile Pompe disease is marked by muscle weakness and heart problems due to an enlarged heart, and without treatment, affected infants generally have a life expectancy of less than two years. Milder forms of the disease, which begin in childhood, adolescence, or adulthood, usually do not involve significant heart issues but gradually impair walking ability and respiratory function.

MZE001, a novel investigational oral glycogen synthase 1 (GYS1) inhibitor, emerges as a promising candidate for treating Pompe disease. This compound works by limiting the accumulation of glycogen, a substance that exacerbates the disease. If successful, MZE001 could become the first oral therapy for Pompe disease, providing a significant advancement over current treatments.

Isao Teshirogi, CEO of Shionogi, expressed optimism about the potential of MZE001, highlighting its unique scientific foundation. He mentioned that Shionogi aims to develop MZE001 both as a standalone treatment and in combination with enzyme replacement therapies, which are the current standard of care for Pompe disease.

The strategic agreement grants Shionogi exclusive worldwide rights to MZE001, encompassing associated programs and intellectual property. The terms of the deal include an upfront payment of $150 million, with additional payments and royalties tied to the achievement of specific development, regulatory, and commercial milestones.

Jason Coloma, CEO of Maze, expressed confidence in Shionogi's ability to advance MZE001 through clinical trials, citing Shionogi's history of developing and delivering innovative medicines globally.

MZE001 has shown potential in reducing glycogen concentration in muscles, as demonstrated in Phase 1 study outcomes. This small molecule inhibitor offers possibilities as both a monotherapy and a complement to enzyme replacement therapy.

In 2022, the US Food and Drug Administration (FDA) granted Orphan Drug Designation to MZE001. This designation offers benefits such as tax credits and market exclusivity, aimed at encouraging the development of treatments for rare diseases.

Pompe disease, a congenital metabolic disorder characterized by the buildup of glycogen in body cells, presents serious challenges for patients. In Japan, it is recognized as a "specified rare disease" and a "specific pediatric disease," which qualifies it for various support measures.

The collaboration between Shionogi and Maze is a major advancement in the quest for effective treatments for Pompe disease. It brings hope to patients and caregivers, reflecting a significant step forward in addressing the needs of those affected by this rare condition.