BioNPC - An international multicenter epidemiological study for the validation of the new lyso-SM509 biomarker


As part of an international multicenter epidemiological study, CENTOGENE is working closely with the Albrecht-Kossel-Institute at the University of Rostock and with Actelion Pharmaceuticals to achieve the goal of positively impacting quality of life for all patients suffering from Niemann-Pick type C (NPC) disease.

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, NPC disease is not an enzyme defect but a cholesterol transport abnormality which makes it difficult to diagnose.

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.

New methods, such as mass-spectrometry, provide a good chance for characterizing the blood (plasma) of affected patents for specific metabolic alterations that in the future will allow us to diagnose the disease earlier, with higher sensitivity and specificity. In a pilot study lyso-SM509 was identified as a sensitive and specific biomarker (Giese et al. Orphanet Journal of Rare Diseases (2015)).

Based on your experiences in metabolic diseases and especially Niemann-Pick type C disease, we are asking you for your participation in our study for the validation of this new biomarker.

To learn more about the study, please visit our homepage.

What are your benefits?

  • Genetic testing, free of charge
  • Monitoring NPC diagnosed patient response to treatment, free of charge
  • A cost-effective solution for sending patient samples using our filtercard kits (CentoCard®)
  • Sophisticated infrastructure that ensures the shortest turnaround time of 7 days maximum

We warmly encourage you to discuss further details with us.

Our Clinical Research Associate Susanne Zielke will welcome any questions by phone (+49 381 494 4737) or by e-mail: susanne.zielke(at)med.uni-rostock(dot)de.


Best regards,

Doreen Niemann
Senior Director Strategic Communication
Centogene AG


Centogene AG
Schillingallee 68
18057 Rostock


Responsible: Doreen Niemann
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