Centogene Biodatabank reveals unique genetic variants in world’s largest Niemann-Pick Type C1 disease cohort

July 2023

Centogene 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 type C1 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.

Professor Peter Bauer, Centogene’s Chief Medical and Genomic Officer, said: “The publication of this landmark study marks a pivotal moment in our understanding of Niemann-Pick type C1 disease patients. We believe that data enables us to better understand a disease with very diverse symptoms and clinical courses, and this study puts us on the right path to identifying potential therapeutic strategies with pharma partners.”

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.

Dr. Aida Bertoli-Avella, Head of Research Data Analysis, said: The study results are a perfect reflection of the significance of data and establishing a holistic diagnosis. By assembling the world’s largest NPC1 cohort, we have gained unprecedented insights that will fuel further research, clinical development, and ultimately, improved patient outcomes.”

To read the full study, visit here.

The link to the article can be found here.