CENTOGENE, the worldwide leader in elucidating rare disease genetics for patients, clinicians and pharmaceutical partners, announced the publication of a scientific paper in the March issue of the American Journal of Hematology. Professor Ari Zimran, M.D., Gaucher unit, Shaare Zedek Medical Center, Hebrew University, Jerusalem, with additional colleagues from Hebrew University and collaborators from Centogene, identified glucosylsphingosine (Lyso-Gb1) as the best response biomarker for monitoring the progress and improvement of Gaucher disease (GD) parameters once a patient has begun treatment with enzyme replacement therapy (ERT).

GD is a lysosomal storage disorder inherited in an autosomal recessive mode. GD is caused by reduced activity of the enzyme glucocerebrosidase due to mutations in the GBA1 gene. While Lyso-Gb1 has been shown by many studies to be an ideal diagnostic biomarker, the current publication provides further evidence that Lyso-Gb1 can also be used as a quantifiable marker to measure patient response to therapy.

The study by Arkadir et al.1, conducted in collaboration with CENTOGENE, describes a retrospective study of GD patients undergoing treatment with ERT. Lyso-Gb1 levels were measured during patient follow-up visits, based on CENTOGENE’s dry blood spots filtercard (CentoCard®) technology, as well as other key indicators of GD, including spleen volume, platelets and hemoglobin counts. The study shows that levels of Lyso-Gb1 decrease with ERT treatment, close to normal levels, as do key disease parameters.

The study concluded that in addition to being the most specific and sensitive diagnostic biomarker of GD, Lyso-Gb1 is also the most reliable rate biomarker for the effectiveness of treatment. Further potential has been identified in using Lyso-Gb1 to solve other persisting issues in the treatment of GD, such as establishing the individual dose of ERT and predicting long-term organ response to therapy. Taken together, Lyso-Gb1 brings more rationality to treatment decision of GD patients and allows to easily monitor the improvement of the clinical symptoms.

About CENTOGENE
CENTOGENE unlocks the power of genetic insights to improve the quality of life of patients with genetic diseases. We achieve this through knowledge created by our worldwide diagnostic testing services incorporating global diversity, the world’s leading proprietary human genetic interpretation database, CentoMD® and solutions for pharmaceutical companies developing life-changing orphan drugs.

As one of the most diversified and largest genetic testing companies worldwide, CENTOGENE is dedicated to transforming the science of genetic information into solutions and hope for patients and their families. www.centogene.com; www.centoMD.com

1 Arkadir, D. , Dinur, T. , Revel‐Vilk, S. , Becker Cohen, M. , Cozma, C. , Hovakimyan, M. , Eichler, S. , Rolfs, A. and Zimran, A. (2018), Glucosylsphingosine is a reliable response biomarker in Gaucher disease. Am J Hematol. . doi:10.1002/ajh.25074

Register as Visitor to CPhI China 2018!