Shionogi and Maze secure global exclusive to combat Pompe disease

Shionogi has taken a notable step forward in the fight against Pompe disease by securing a strategic agreement focused on expanding its pipeline in the rare disease sector. This agreement, announced today, emphasizes Shionogi's commitment to addressing conditions that have a significant unmet medical need.

Pompe disease, as described by the National Organization for Rare Disorders (NORD), presents with a spectrum of symptoms and rates of progression, manifesting at any age from infancy to late adulthood. The disease is marked by skeletal muscle weakness, which hampers mobility and impacts respiratory function. The severity of symptoms often correlates with the age of onset; earlier onset generally results in more rapid disease progression and increased severity. Infants suffering from the most severe form, known as classic infantile Pompe disease, typically exhibit symptoms within the first three months of life. They often experience cardiac issues due to heart enlargement, alongside generalized muscle weakness, and, without treatment, have a life expectancy of less than two years.

In contrast, less severe forms of Pompe disease that appear during childhood, adolescence, or adulthood rarely cause heart problems but gradually impair walking ability and respiratory function.

The investigational oral glycogen synthase 1 (GYS1) inhibitor, MZE001, holds substantial promise as a transformative therapy for Pompe disease by reducing the accumulation of glycogen, the substance that drives the disease. If successful, MZE001 could become the first oral therapy for this debilitating condition. Shionogi's CEO, Isao Teshirogi, highlighted the innovative nature of MZE001, expressing enthusiasm for its potential as both a standalone treatment and as an adjunct to existing enzyme replacement therapies.

Under the terms of the new agreement, Shionogi gains exclusive global rights to MZE001, including all associated programs and intellectual property. The agreement includes an initial payment of $150 million to Maze, with additional milestone payments and royalties contingent on the achievement of development, regulatory, and commercial milestones. Jason Coloma, CEO of Maze, expressed his confidence in Shionogi's capability to advance MZE001 through clinical trials, citing Shionogi's history of successfully developing and delivering innovative medicines to patients worldwide.

MZE001's potential was underscored by recent Phase 1 study results, which demonstrated its effectiveness in reducing glycogen levels in muscle tissues. Recognizing its promise, the US Food and Drug Administration (FDA) granted Orphan Drug Designation to MZE001 in 2022. This designation provides significant incentives, including tax credits and market exclusivity, to encourage the development of therapies for rare diseases.

Pompe Disease, a congenital metabolic disorder characterized by the accumulation of glycogen in various tissues, remains a significant challenge for affected individuals. In Japan, Pompe disease has been designated both a "specified rare disease" and a "specific pediatric disease," thereby qualifying it for various forms of governmental support.

The collaboration between Shionogi and Maze is a significant milestone in the quest to develop effective treatments for Pompe disease. This partnership offers a beacon of hope for patients and their families, promising advancements in therapy that could dramatically improve quality of life and disease management for those affected by this rare and challenging condition.