Phosphomannomutase 2 deficiency (PMM2-CDG) is the most common congenital disorder of glycosylation, a group of ultra-rare hereditary metabolic disorders. Glycosylation is a process by which sugars are chemically attached to proteins to form glycoproteins, or a group of complex proteins. Since protein glycosylation is ubiquitously required in the human body, loss of PMM2 function has multi-organ systemic effects. PMM2-CDG is a serious disease, with up to 20% mortality in the first 4 years of life. There are ~1,000 patients identified worldwide, primarily in US and EU, and no approved drugs.
Approximately 1,000 patients are affected globally
Patients have a mortality rate of up to 20% in the early years
Patients who survive infancy face lifelong chronic challenges
Applied Therapeutics is committed to advancing research into the causes of, and treatment for, PMM2-CDG.
Patients with PMM2-CDG have imbalances in sugar metabolism pathways, including due to abnormal Aldose Reductase and PMM2 enzyme activity. Initial data in fibroblast cell lines derived from patients with PMM2-CDG demonstrates that AT-007, an investigational, novel Aldose Reductase Inhibitor, results in increased PMM2 activity and may provide therapeutic benefit in PMM2-CDG patients.
AT-007 has the potential to be the first FDA-approved therapy for PMM2-CDG.