FDA Approves First Stand-Alone Therapy for Niemann-Pick Disease Type C

Aqneursa (levacetylleucine; IntraBio, Austin, TX) has been granted Food and Drug Administration (FDA) approval for the treatment of neurologic manifestations of Niemann-Pick disease type C (NPC) in adults and children weighing at least 15 kg. This is the first stand-alone therapy and the second treatment approved by the FDA for the treatment of NPC (see news about the first FDA approved treatment).

The safety and efficacy of Aqneursa were demonstrated in a multinational, randomized, double-blind, placebo-controlled, 24-week, phase 3 crossover trial (NCT05163288) which included 60 participants aged ≥4 years with confirmed NPC diagnosis and mild neurologic symptoms. The primary endpoint was measured using the functional version of the Scale for the Assessment and Rating of Ataxia (fSARA).

Results showed that patients treated with Aqneursa for 12 weeks experienced improved fSARA scores compared to those taking placebo (mean treatment difference, -0.4; 95% CI, -0.7 to -0.2; P<.001). Aqneursa was well tolerated and the most common adverse reactions (incidence ≥5% and greater than placebo) were abdominal pain, dysphagia, upper respiratory tract infections, and vomiting. The prescribing information includes a warning that Aqneursa may cause embryo-fetal harm if used during pregnancy.

NPC often presents in children aged <10 years and results from mutations in the NPC1 or NPC2 genes, leading to impaired cellular lipid transport. NPC manifests as progressive neurologic decline, including developmental delays, cognitive impairment, tremors, and cerebellar ataxia. Aqneursa is a modified amino acid that is thought to act by normalizing energy metabolism.

“This is the second treatment the FDA has approved for NPC within the span of a week. Today’s action further underscores the agency’s commitment to support development of new treatments for rare diseases,” said Janet Maynard, MD, MHS, director of the Office of Rare Diseases, Pediatrics, Urologic and Reproductive Medicine, in the FDA’s Center for Drug Evaluation and Research.