EMA Recommends Aqneursa for Niemann-Pick Type C Disease

At its July 2025 meeting, the European Medicines Agency’s Committee for Medicinal Products for Human Use (CHMP) recommended granting a marketing authorization in the European Union for Aqneursa (IntraBio Ireland Ltd) for the treatment of neurologic manifestations of Niemann-Pick type C (NPC) disease.

The treatment can be used in combination with miglustat, or as a monotherapy for patients in whom miglustat is not tolerated, in adults and children aged 6 years and older and weighing at least 20 kg, the CHMP said.

It also pointed out that miglustat is the only medicine authorized to treat NPC disease and has been shown to slow the general progression of neurologic symptoms in patients.

NPC disease is a rare, progressive, and fatal genetic disorder caused by mutations encoding lysosomal proteins that are essential for the intracellular transport and metabolism of body fats, including cholesterol. Over time, the cells of the central nervous system and the body organs stop working. There are no curative therapies for NPC disease.

The course of the disease varies highly depending on the age of onset, but most patients with NPC disease are children and die before the age of 20. 

Improvement in Neurologic Signs, Symptoms, and Functioning 

The active substance of Aqneursa is levacetylleucine, a modified form of the amino acid leucine that targets underlying processes of neurologic dysfunction. Although the mechanism of action of levacetylleucine is not yet fully understood, nonclinical studies have demonstrated that it corrects energy metabolism. This includes improved production of adenosine triphosphate, the main source of energy for cerebellar tissues and cells.

A randomized, double-blind, placebo-controlled, two-period crossover phase 3 study demonstrated that levacetylleucine offered improvement in neurologic signs, symptoms, and functioning — measured using the Scale for the Assessment and Rating of Ataxia — in patients with NPC disease after 12 weeks of treatment compared with placebo.

For the study, 60 patients aged 4 years or older with a confirmed diagnosis of NPC disease and at least mild disease-related neurologic symptoms were randomized in a 1:1 ratio to receive either levacetylleucine or placebo for 12 weeks. For the second 12 weeks, patients were switched to the opposite: either placebo or levacetylleucine.

At the end of the first 12 weeks, patients treated with levacetylleucine demonstrated a statistically significant improvement compared with those treated with placebo. At the end of the second 12 weeks, patients who switched from levacetylleucine to placebo experienced a significant worsening of symptoms.

The only adverse event causally related to treatment with levacetylleucine is flatulence. The drug will be available as 1-g granules for oral suspension.

Rob Hicks is a retired National Health Service doctor. A well-known TV and radio broadcaster, he has written several books and has regularly contributed to national newspapers, magazines, and online publications. He is based in the United Kingdom.