EMA Endorses Levacetylleucin for Niemann-Pick Disease Type C

The European Medicines Agency (EMA) has recommended the approval of Levacetylleucin, also known as N-Acetyl-L-Leucin (Aqneursa®), for the treatment of neurological manifestations associated with Niemann-Pick Disease Type C (NPC) in patients aged six years and older who weigh at least 20 kg.

Niemann-Pick Disease Type C is a rare lysosomal lipid storage disorder, often referred to as 'childhood dementia.' The disorder presents a wide range of clinical symptoms that can vary significantly with age, and patients' life expectancy can range from a few days to several decades. The disease is caused by mutations in the NPC1 and NPC2 genes, which are crucial for the intracellular transport and metabolism of lipids and cholesterol. These mutations lead to impaired cholesterol transport within cells, resulting in cholesterol accumulation, particularly in neuronal cells.

The progression of NPC is highly variable, with many individuals experiencing severe neurological decline as the central nervous system and other organs deteriorate over time. Most patients with NPC do not survive beyond their teenage years, and there is currently no curative treatment available. Miglustat is the only FDA-approved medication for NPC, which helps slow the progression of neurological symptoms but does not halt the disease.

The Committee for Medicinal Products for Human Use (CHMP) of the EMA evaluated the efficacy of Levacetylleucin based on its ability to improve ataxia scores and enhance energy metabolism, particularly in the production of adenosine triphosphate (ATP), which is essential for cellular energy. The new medication can be used alone or in combination with Miglustat, especially for patients who cannot tolerate Miglustat. Levacetylleucin is available in a granule form that can be prepared into a suspension for oral administration, with dosing based on the patient's weight and a maximum of three doses per day.

This recommendation is a significant advancement in the treatment options available for NPC, offering hope to families affected by this devastating condition. The approval process is expected to proceed, potentially making Levacetylleucin available to patients in the near future.