Centogene announced data confirming the utility of lyso-Gb1 (glucosylsphingosine) as a sensitive biomarker for Gaucher disease (GD). The findings from this landmark study which were published in Diagnostics in a paper titled, “Insights into the value of lyso-Gb1 as a predictive biomarker in treatment-naïve patients with Gaucher disease type 1 in the LYSO-PROOF study,” also indicate lyso-Gb1 could help to predict the clinical course of patients and improve personalized care of GD patients in the future.
Professor Peter Bauer, Centogene’s Chief Medical and Genomic Officer, said: “Over the past decade, we have leveraged all our multiomic technological know-how to establish and confirm lyso-Gb1 as the best biomarker for Gaucher disease. This landmark study further advances our understanding of Gaucher disease patients – demonstrating a significant correlation between lyso-Gb1 levels and disease severity. The combination of state-of-the-art multiomic testing with access to data from our diverse, real-world CENTOGENE Biodatabank provides the essential link between genetic variants and actionable clinical information.”
The study, which included 160 treatment-naïve GD patients from Israel, Russia, Pakistan, Egypt, Iran, Morocco, Algeria, India, Spain, Albania, Greece, Sweden, Columbia, and Tunisia, is one of the largest studies to examine Gaucher patients who have never received disease-specific treatment.
Centogene utilized CentoCard®, the company’s proprietary, CE-marked dried blood spot (DBS) collection kit in combination with state-of-the-art biochemical and sequencing technologies to screen for mutations in the GBA1 gene and establish a GD diagnosis. The insights gained were powered by the Centogene Biodatabank, the world’s largest real-world integrated multiomic data repository in rare and neurodegenerative diseases.
The results of the study revealed a highly significant correlation between lyso-Gb1 and disease severity in all Gaucher patients, including those with novel rare GBA1 variants.
Tobias Böttcher, M.D., Director of Clinical Neurogenetics at Centogene: “This important international study has helped to set the standard for Gaucher disease care – from diagnosis and prognosis to treatment and monitoring. The progressive increase in lyso-Gb1 levels in untreated Gaucher patients suggests that these patients could benefit from treatment, such as enzyme replacement therapy. The biomarker, combined with diagnostic and sequencing technologies, provides physicians with the tool to establish the best therapeutic strategies for each individual patient, which could significantly improve their quality of life.”
To read the full study, visit: https://link.centogene.com/lyso-gb1-publication
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