Gaucher disease (GD) is a rare lysosomal storage disorder. It is caused by a deficiency in the glucocerebrosidase enzyme.

In June, a new study was published in the International Journal of Molecular Sciences documenting the importance of monitoring lyso-Gb1 in pediatric Gaucher disease patients.

The Study

This study was initiated in 2014 and lasted four years. It enrolled 81 children who were all diagnosed with GD. The participants all had varying severity of disease and all of them were receiving treatment at the Shaare Zedek Medical Center located in Jerusalem, Israel.

The researchers aimed to evaluate whether or not lyso-Gb1, or glucosylsphingosine, was an accurate biomarker for monitoring pediatric GD patients. Previous studies have showcased that, for adult patients, it is a highly sensitive biomarker which can aid in both diagnosis and treatment. However, no study had evaluated this biomarker for children with the disease.

To assess the lyso-Gb1 levels the scientists used a proprietary biomarker which had been developed by Centogene.

• The correlation between platelet count and lyso-Gb1 for children who have mild GD1 was significant
• The correlation between hemoglobin level and lyso-Gb1 for children who have severe GD1 was significant
• There was a correlation between disease severity and lyso-Gb1 levels
• There was an inverse correlation that was significant between platelet count and lyso-Gb1 for children who had not been treated (suggests that these individuals should receive enzyme replacement therapy)
• There was an Inverse correlation that was significant between hemoglobin level and lyso-Gb1 for children who had been treated

Ultimately, these results indicate that lyso-Gb1 is a very effective biomarker for monitoring pediatric Gaucher disease patients. The researchers explain that routine appointments for children (treated and untreated) with the condition should include an evaluation of lyso-Gb1 levels.