- In February 2025, Zevra Therapeutics, Inc. launched a new disease awareness campaign, "Learn NPC, Read Between the Signs," in observance of Rare Disease Day. The campaign aims to emphasize the importance of early recognition and diagnosis of Niemann-Pick disease type C (NPC), a condition marked by a wide range of symptoms. NPC is an ultra-rare, progressive neurodegenerative lysosomal storage disorder, with varying ages of onset and symptom presentations, often complicating the diagnostic process.
- In September 2024, the U.S. Food and Drug Administration (FDA) approved Miplyffa (arimoclomol), an oral medication for treating Niemann-Pick disease type C (NPC). When used in combination with the enzyme inhibitor miglustat, Miplyffa is approved to address neurological symptoms of NPC in both adults and children aged 2 years and older. This marks Miplyffa as the first FDA-approved drug specifically designed to treat NPC.
- In September 2024, the U.S. Food and Drug Administration approved Aqneursa (levacetylleucine) for treating neurological symptoms associated with Niemann-Pick disease type C (NPC) in adults and pediatric patients weighing at least 15 kilograms. The FDA granted Aqneursa several designations, including Priority Review, Fast Track, Orphan Drug, and Rare Pediatric Disease, to support its approval process.
- In July 2024, Azafaros B.V. announced positive topline results from its RAINBOW study, a Phase 2 clinical trial evaluating nizubaglustat in patients with a genetic diagnosis of either GM2 gangliosidosis or Niemann-Pick disease type C (NPC). The trial, conducted across three sites in Brazil, involved 13 patients aged over 12 years. The study aimed to assess the safety, pharmacodynamics, and pharmacokinetics of two different doses of nizubaglustat.
- In January 2022, Centogene N.V. and Insilico Medicine announced a research and development partnership aimed at accelerating the discovery of novel therapeutic targets for Niemann-Pick disease type C. The collaboration is set to last 20 weeks initially. During this period, both companies will analyze identified targets before validating them in CENTOGENE's cellular models. CENTOGENE will retain exclusive rights to any intellectual property resulting from the research.
