Centogene N.V. announced the publication of a landmark study titled, "At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years." Recently published in the European Journal of Human Genetics, one of the world's leading medical genetic journals, the study represents the largest and most heterogeneous Niemann-Pick typeC1 disease (NPC1) cohort, with 602 patients referred from 47 countries. NPC1 is a rare and severe autosomal recessive disorder, characterized by a range of neurovisceral clinical manifestations and a fatal outcome with no effective treatment to date. To gain a deeper understanding of the disease, researchers carried out an analysis using the CENTOGENE Biodatabank, which included clinical, genetic, and biomarker data from NPC1 patients from the past 15 years.

The study's findings reveal groundbreaking insights into the clinical and metabolic patterns of NPC1 disease. The analysis of the data captured in the CENTOGENE Biodatabank revealed 287 unique Pathogenic/Likely Pathogenic (P/LP) variants, with 73 having not been described previously. Additionally, researchers identified variant-linked patterns of symptoms and manifestations by leveraging Human Phenotype Ontology (HPO) terms. Furthermore, these results suggest that in addition to its utility to classify and report variants, the biomarker N-palmitoyl-O-phosphocholineserine ((PPCS), formerly known as lyso-SM-509), might serve to indicate disease severity/progression.

In analyzing the data, CENTOGENE was able to establish novel genotype-phenotype relationships and illustrate the value of combined genetic and biomarker testing to diagnose and increase the understanding of NPC1.