Niemann-Pick Type C

Please note- The EPG Niemann-Pick Type C Knowledge Centre is for Doctors and other Healthcare Professionals.

Niemann-Pick type C disease is a rare genetic lysosomal storage disorder that causes severe, progressive neurological symptoms. It is a very serious, life-threatening condition that can affect infants, children and adults. NP-C is characterized by cellular accumulation of lipids, in particular unesterified cholesterol and glycosphingolipids, in many parts of the body including brain, liver and spleen.

The variability of NPC presentations provides a wide range of life expectancy. In general, early-onset patients tend to die during childhood or early adolescence, while patients with later-onset disease who appear to be less drastically affected can live into late adulthood.

Accurate diagnosis of NPC requires awareness of many clinical phenotypes, narrowing of differential diagnosis by ancillary testing and final confirmation by biochemical testing – the current mainstay of primary diagnosis in NPC.

The prevalence of NPC has undoubtedly been underestimated in the past due to a mixture of factors including confusing terminology, prior lack of specific biochemical or genetic tests, varied pathology, and the many variant clinical manifestations of the disease.

Current, non-specific treatments for NPC focus mainly on supportive care, aimed toward managing the symptoms of the disease. As such, these treatments have no effect on disease progression or long-term outcomes.

Specific therapies for the intended treatment of NPC are based on targeting known pathophysiological and/or biochemical defects involved in the pathogenesis of the disease. While earlier attempts proved largely ineffective, more recent efforts indicate possible hope for the future. 

Enter the Niemann-Pick Type C Knowledge Centre

What’s in the Niemann-Pick Type C Knowledge Centre?

• Epidemiology
• Impact of NPC
• Home
• Prognosis
• Signs and symptoms
• Introduction
• Diagnostic Testing
• Initial Evaluations
• Misdiagnosis
• Specialist Referral
• Carrier Detection and Genetic Counselling
• Genetics of NPC
• Mutations
• Patterns of inheritance
• Neuropathology
• NPC Defects in Lipid Trafficking
• Roles of NPC gene products in pathogenesis
• Glossary
• Resources - External Links
• Evaluating clinical treatment effects
• Specific Therapies
• Symptomatic Therapies