Lyso-Sphingomyelin 509 - a novel biomarker for Niemann Pick
type C1 (NPC1) provides significant improvement for patient diagnosis and particularly in therapy monitoring


Biomarkers play an essential role in the diagnosis, prediction and therapy monitoring of several metabolic diseases, especially when patients have accessible treatment options. Ideally, biomarkers enable testing of patients suspected to suffer from a given disease. Importantly, the major unique benefit of biomarkers is monitoring the impact of therapy. Particularly within early phases of treatment at least a monthly testing is recommended.

For all applications, simple and efficient sample logistics is essential. One drop of blood on a filtercard is sufficient. Robust and accurate results have been demonstrated for all biomarker tests using Centogene’s dried blood spot kits, CentoCard®.

Please find more details below and in our publication about this new assay.

Niemann-Pick Type C disease is a progressive lysosomal storage disorder (LSD) that is reported in at least 1:50,000 live births, with greater severity in early onset cases. It is an autosomal-recessive disease caused in 95% of cases by a mutation in the NPC1 gene (OMIM: 607623).
Symptoms include: psychiatric problems, dementia, dystonia, developmental retardation, hepatosplenomegaly.

Unlike Niemann-Pick Type A/B, NPC1 disease is not an enzyme defect but a cholesterol transport abnormality which makes it difficult to diagnose. Lyso-sphingomyelin 509
is the best biomarker so far discovered for the easy diagnosis of NPC1. We present here a study based on a cohort of 488 individuals, including controls and genetically proven NPC1 patients from worldwide cohort. To detect and quantify this new biomarker, a newly developed LC/MRM-MS method was used.

Lyso-SM-509 – in brief:

  • 100% sensitivity for NPC1
  • Quicker, easier and more accurate method than classical Filipin staining test for diagnosis of and follow-up indications for NPC1, using blood products such as plasma or even easier dried blood spots
  • Significant correlation, but proven superiority, with the biomarkers previously used for NPC1 screening, MEFL and cholestane-3β,5α,6β- 287triol (Oxysterols)
  • Significant correlation with the annual severity increment score (ASIS) of the disease
  • Can also be used to diagnose Niemann-Pick Type A/B disease
  • Excellent stability even after repeated freeze/thaw cycles (in plasma) and after prolonged storage at room temperature (in dried blood spots)

For more details and to read the full article, click here.

If you have any questions or comments, please do not hesitate to contact us.

Best regards,

Doreen Niemann
Senior Director Strategic Communication
Centogene AG


Centogene AG
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