Hebrew U Study Identifies Most Effective Biomarker for Gaucher Disease Monitoring

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May 1 2018

Professor Ari Zimran, MD, Gaucher unit, Shaare Zedek Medical CenterCentogene, the worldwide leader in elucidating rare disease genetics for patients, announced the recent finding from a study led by Professor Ari Zimran, MD, Gaucher unit, Shaare Zedek Medical Center, Hebrew University, Jerusalem, and his colleagues at Hebrew University.

This study identified Glucosylsphingosine (Lyso-Gb1) 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).

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 during patient follow-up visits where 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).

Based off of the results, it was concluded that Lyso-Gb1 was 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.


Read source articles:

Gaucher's Disease


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