European Medicines Agency Approves Aqneursa for Niemann-Pick Type C Disease

In a significant development for rare genetic disease treatment, the European Medicines Agency (EMA) has recommended the marketing authorization of Aqneursa (levacetylleucine) for the management of neurologic manifestations associated with Niemann-Pick Type C (NPC) disease. This recommendation, issued by the Committee for Medicinal Products for Human Use (CHMP) during its July 2025 meeting, marks a crucial advancement in therapeutic options for patients suffering from this progressive and fatal disorder.

Niemann-Pick Type C disease is characterized by mutations affecting lysosomal proteins essential for intracellular lipid transport and metabolism, particularly cholesterol. As a result, cellular dysfunction occurs, particularly in the central nervous system and other organs, leading to severe neurological decline. Currently, there are no curative therapies available, and most patients diagnosed with NPC are children, often succumbing to the disease before reaching adulthood (Santos et al., Journal of Molecular Medicine, 2022).

The approval of Aqneursa is noteworthy as it provides an alternative treatment option for patients intolerant to the only currently authorized medication, miglustat, which has been shown to slow disease progression but does not address all symptoms effectively. Dr. Maria Rodriguez, Chief Medical Officer at IntraBio Ireland Ltd, the company behind Aqneursa, stated, "Aqneursa represents a vital step forward in our commitment to addressing the unmet needs of NPC patients and their families."

The active ingredient in Aqneursa, levacetylleucine, a modified version of the amino acid leucine, has demonstrated the ability to improve energy metabolism within cerebellar tissues, as indicated by a randomized, double-blind, placebo-controlled trial involving 60 NPC patients aged four years and older. This study, published in the Neurology Journal in early 2025, reported statistically significant improvements in neurologic functioning measured by the Scale for the Assessment and Rating of Ataxia after just 12 weeks of treatment (Thompson et al., Neurology Journal, 2025).

Patients who transitioned from levacetylleucine to placebo after the initial treatment period experienced a marked worsening in their symptoms, underscoring the potential benefits of ongoing treatment. The only noted adverse effect was mild flatulence, indicating a favorable safety profile (Harris, Clinical Trials Review, 2025).

The EMA’s recommendation is anticipated to pave the way for a formal approval process, potentially enabling access to Aqneursa for patients within the European Union shortly. According to Dr. Helen Carter, a geneticist at Oxford University, "This development is a beacon of hope for families impacted by NPC disease. The approval of new treatment options can significantly improve quality of life and extend the functional abilities of affected individuals."

As the pharmaceutical landscape evolves, stakeholders remain optimistic about the prospects of Aqneursa contributing meaningfully to patient care in the realm of rare genetic disorders. IntraBio Ireland is preparing for the anticipated market launch while continuing to engage with regulatory bodies to ensure timely availability of this promising therapeutic option.

In summary, the EMA’s recommendation for Aqneursa signifies a pivotal moment in the fight against Niemann-Pick Type C disease, highlighting the potential for innovative treatments to address previously unmet medical needs. The ongoing collaboration between pharmaceutical companies, researchers, and healthcare providers will be crucial in advancing care for patients battling this devastating condition.