In one week, the US Food and Drug Administration approved two treatments for Niemann–Pick disease type C (NPC). One agent, Miplyffa (arimoclomol) from Zevra Therapeutics, is the first drug approved by FDA to treat neurologic symptoms associated with NPC, in combination with the enzyme inhibitor miglustat. The other is IntraBio’s Aqneursa (levacetylleucine), an oral modified amino acid (N-acetyl-l-leucine) product that enhances cerebral glucose metabolism to reinvigorate mitochondrial ATP-related functions.

NPC is caused by mutations in NPC1 or NPC2 genes that result in abnormal lysosomal storage affecting cholesterol and lipid transport in cells, leading to progressive neurologic impairment and organ dysfunction. On average, people with NPC live for about 13 years, and until now, there was no approved therapy for this ultra-rare disease.