August 07, 2025
A new treatment for Niemann-Pick type C (NPC), a rare and life-threatening genetic disorder, has received a positive opinion from the European Medicines Agency (EMA). The agency has recommended authorizing Aqneursa (levacetylleucine) for use in adults and children aged six and older who weigh at least 20 kg. The drug can be taken alongside the existing therapy miglustat, or used alone if miglustat isn’t tolerated.
NPC is a progressive disease caused by genetic mutations that disrupt how cells handle fats like cholesterol. It leads to widespread organ damage, especially in the brain, and most patients—typically children—do not survive past early adulthood. Currently, miglustat is the only approved treatment, offering some slowing of neurological decline.
Aqneursa is a modified form of leucine, an amino acid vital for energy production and cell repair. Preclinical studies show it helps restore energy metabolism in brain cells, particularly in the cerebellum, which is heavily affected in NPC.
The EMA’s recommendation is based on results from a 60-patient clinical trial. Participants were assessed using a scale that measures neurological function, including walking, speech, and coordination. After 12 weeks, patients taking Aqneursa showed significant improvement compared to those on placebo. When patients later switched to placebo, symptoms worsened—confirming the drug’s effect. Importantly, Aqneursa was effective even in those not taking miglustat.
If formally approved, Aqneursa would become a much-needed new option for patients living with this devastating disease.
SOURCE: https://www.ema.europa.eu/en/news/new-treatment-niemann-pick-type-c-disease
CREDITS: EMA