CENTOGENE Biodatabank Reveals Unique Genetic Variants in World’s Largest Niemann-Pick Type C1 Disease Cohort

Results Published in European Journal of Human Genetics Demonstrate Unprecedented Insights to Accelerate Potential Treatment Options

• Inclusion of 602 patients from 47 countries represents the world’s largest and most heterogeneous Niemann-Pick type C1 disease (NPC1) cohort
• Study identified 287 unique Pathogenic/Likely Pathogenic (P/LP) variants, 73 of which had never been described before
• Data reveals novel genotype-phenotype associations and suggests utility of biomarker N-palmitoyl-O-phosphocholineserine (PPCS) to indicate disease severity and progression
• NPC1 is a rare and fatal autosomal recessive disorder, with no effective treatment to date

Excerpt from the Press Release:

CAMBRIDGE, Mass. and ROSTOCK, Germany and BERLIN, July 12, 2023 (GLOBE NEWSWIRE) — CENTOGENE N.V. (Nasdaq: CNTG) (the “Company”), the essential life science partner for data-driven answers in rare and neurodegenerative diseases, today 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.

“The publication of this landmark study marks a pivotal moment in our understanding of Niemann-Pick type C1 disease patients,” said Professor Peter Bauer, CENTOGENE’s Chief Medical and Genomic Officer. “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.”

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