Treatment of Single Patient With PMM2-Congenital Disorder of Glycosylation With Govorestat (AT-007), an Aldose Reductase Inhibitor

Aldose reductase inhibitors (ARI) have been identified as a potential treatment for phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG), a serious condition for which no treatments are approved. We treated a single patient for 36 months 30 months of age at enrollment, under a single-patient investigational new drug expanded access request, with govorestat (AT-007), a novel, highly selective, once daily, brain penetrant ARI at a starting dose of 1 mg/kg oral suspension, which was escalated to 30 mg/kg.