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THINK AGAIN. THINK NP-C

THINK AGAIN. THINK NP-C

CLINICAL ASSESSMENT OF NEUROLOGICAL SYMPTOMS IN NP-C

CLINICAL ASSESSMENT OF NEUROLOGICAL SYMPTOMS IN NP-C

NP-C Suspicion Index

NP-C Suspicion Index

Masterclasses

Masterclasses

Welcome to NPC-info.com

Niemann-Pick type C (NP-C) is a treatable inherited, irreversible and chronically debilitating neurovisceral disease with a minimal incidence previously estimated to be 1:100,000-1:120,000.1 More recent analysis of four large, independent exome sequencing databases suggests that NP-C may be more prevalent, with a conservative estimated incidence of 1/89,229 for classical NP-C.2 The disease is characterized by progressive, disabling neurologic symptoms and premature death in most patients. The age of onset is highly variable; affecting infants, children and adults.

This website aims to increase healthcare professional awareness of how NP-C might present and help you understand which symptoms and features should prompt further investigation or referral. It also provides links to resources and tools that aid diagnosis and management of NP-C, as well as monitoring of disease progression. These include consensus guidelines for the clinical management of NP-C in children and adults,3 recently updated recommendations for the screening and diagnosis of patients with NP-C,4 the NP-C Suspicion Index, a simple-to-use screening tool to help identify patients who should be tested for NP-C to aid earlier diagnosis, 5–7 and resources such as the NP-C Professional network and Neurocular.com.

There are two other forms of Niemann-Pick: type A and type B. This website focuses on Niemann-Pick type C and does not include information about the other forms of Niemann-Pick disease.

References

  1. Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis 2010;5:16.
  2. Wassif CA, Cross JL, Iben J, et al. High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets. Genet Med 2016;18:41–8.
  3. Patterson MC, Hendriksz CJ, Walterfang M, et al., on behalf of the NP-C Guidelines Working Group. Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update. Mol Genet Metab 2012;106:330–44.
  4. Marquardt T, Clayton P, Gissen P, et al, on behalf of the NP-C Diagnostics Working Group. New consensus recommendations for the detection and diagnosis of Niemann-Pick disease type C. J Inherit Metab Dis 2016;39:35.
  5. Wijburg FA, Sedel F, Pineda M, et al. Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C. Neurology 2012;78:1560–7.
  6. Hendriksz C, Pineda M, Fahey M, et al. The Niemann-Pick disease Type C Suspicion Index: development of a new tool to aid diagnosis. J Rare Dis Diagn Ther 2015;1:11.
  7. Pineda M, Mengel E, Jahnova H, et al. A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C). BMC Pediatr 2016;16:107.