Rare Disease Report

Lyso-Gb1 Identified as Most Effective Biomarker for Gaucher Disease Monitoring

MAY 01, 2018
Krista Rossi
In a recent press release, Centogene announced the publication of its scientific paper in the American Journal of Hematology, in which glucosylsphingosine (Lyso-Gb1) was identified as the most effective response biomarker for monitoring the progress and improvement of Gaucher disease parameters once a patient has begun treatment with enzyme replacement therapy (ERT).

The study was led by Professor Ari Zimran, MD, Gaucher unit, Shaare Zedek Medical Center, Hebrew University, Jerusalem, and included additional insight from colleagues at Hebrew University (Where?).

Gaucher disease is a lysosomal storage disorder inherited in an autosomal recessive mode. It is caused by mutations in the GBA1 gene, which reduces activity of the enzyme glucocerebrosidase.

The retrospective study was conducted in collaboration with Centogene, and outlines Gaucher disease patients undergoing treatment with ERT. During patient follow-up visits, Lyso-Gb1 levels were measured and based on Centogene’s dry blood spots filtercard (CentoCard) in combination with spleen volume, platelets, and hemoglobin counts (which are other key indicators of Gaucher disease).

Twenty-five non-splenectomized patients, all homozygote to the N370S GBA1, were enrolled in the study, and all participants were administered a low-dose (15 units/kgBW/every 2 weeks) of ERT. Measures at baseline and following ERT included changes of Lyso-Gb1, platelet count, hemoglobin, spleen, and liver size. The median follow-up time was 46 weeks. Lyso-Gb1 levels improved significantly, being half-normalized after 15.4 months. Additionally, the exponential curve, which measured the decay in the Lyso-Gb1 levels following ERT therapy, showed an effective response (R2=0.84).

According to study results, decreases of Lyso-Gb1 levels (close to normal levels) as well as other key disease parameters with ERT treatment were shown in patients with Gaucher disease. Based off of the results, it was concluded that Lyso-Gb1 is the most reliable rate biomarker for the effectiveness of treatment in addition to being the most specific and sensitive diagnostic biomarker of Gaucher disease. Overall, the study showed that after 15.4 months of treatment, Lyso-Gb1 levels provide the most reliable long-term quantitative response parameter. Other measures, including platelet count, hemoglobin, spleen, and liver size, proved to be less suitable long-term measures.

Looking forward, while Lyso-Gb1 has been shown by many studies to be an ideal diagnostic biomarker, it has also been identified as having the potential to solve other persisting treatment issues of Gaucher disease, such as predicting long-term organ response to therapy and establishing the individual dose of ERT.

“Centogene's CE-labeled biomarker LysoGb1 is not only a diagnosis biomarker that reflects the severity of the disease, but it also plays a crucial role in advancing personalized therapy of Gaucher disease," said Professor Arndt Rolfs, founder and CEO of Centogene. "The usage of LysoGb1 as a response biomarker enables us to monitor the therapeutic efficacy and best support the physician in making more informed decisions when tailoring drug therapy for each Gaucher patient." 

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