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Could it be Niemann-Pick disease type C (NPC)?
Calculate suspicion of NPC using the NPC Suspicion Index (NPC-SI) today
NPC-SI for individuals older than 4 years
NPC-SI for individuals younger than 4 years (early-onset NPC)
What is NPC?
Niemann-Pick disease type C (NPC) is a rare inherited neurodegenerative disease (a condition in which the brain and nervous system gradually deteriorate over time) that affects infants, children, and adults. It is caused by an accumulation of lipids (fats) in the liver, brain, and spleen, leading to a range of neurological (relating to the brain, spinal cord, or nerves), visceral (internal organs), and psychiatric (an individual's mental state, including thoughts or feelings) symptoms.1
It is inherited in an autosomal recessive manner (two copies of an abnormal gene are inherited – one from each parent), with the age of onset and disease progression varying greatly from person-to-person. This highly variable disease is characterised by a wide range of symptoms that, individually, are not specific to NPC, meaning that it is often missed or misdiagnosed.1
What is the NPC-SI?
The Niemann-Pick disease type C Suspicion Index (NPC-SI) is a simple, interactive screening tool developed by an international panel of NPC clinical experts to support healthcare professionals in the early identification and referral of individuals suspected of NPC.
NPC-SI includes two distinct age-specific tools: one for individuals older than four years and another for individuals younger than four (early-onset NPC). A risk prediction score (RPS) is calculated based on the presentation of key clinical symptoms of NPC and the individual’s family history, indicating the level of suspicion for NPC.
See Resources for the clinical publications supporting the NPC-SI.
Who is the INPDA?
The International Niemann-Pick Disease Alliance (INPDA) is a global network of non-profit organisations supporting people affected by Niemann-Pick diseases, including NPC. The alliance was formed in 2009 to provide a forum for patient groups and professionals working in Niemann-Pick diseases.
To find out more, visit the INPDA’s website.