In a paper published in June 2019 in the International Journal of Molecular Sciences, a four-year study of 81 children suffering from Gaucher Disease (GD) of varying severity reveals that glucosylsphingosine (lyso-Gb1) is an extremely accurate biomarker for monitoring children suffering from GD.
The study ̶ the first of its kind to assess whether or not lyso-Gb1 has a role in monitoring treated and untreated children ̶ identifies the instrumental role that lyso-Gb1 can play in treatment monitoring for children. Starting in 2014, the study assessed lyso-Gb1 levels of children under the care of the Shaare Zedek Medical Center in Jerusalem, Israel using a proprietary biomarker developed by CENTOGENE. Previous studies on lyso-Gb1 as a biomarker have focused only on adult GD patients.
The results of the study revealed:
A significant correlation between:
- lyso-Gb1 and platelet count in children with mild GD1
- lyso-Gb1 and hemoglobin level in children with severe GD1
A significant inverse correlation between:
- lyso-Gb1 and platelet count in untreated children
- lyso-Gb1 and hemoglobin level in treated children
“Lyso-Gb1 has previously been proven to be a highly sensitive and specific biomarker for the diagnosis and monitoring of adult patients suffering from Gaucher Disease,” commented Prof. Arndt Rolfs, MD, CEO CENTOGENE and a contributing author of the study. “Biomarkers are extremely important in the diagnosis and treatment monitoring of rare disease patients, and for children suffering from Gaucher Disease in particular we have seen that lyso-Gb1 is an extremely effective biomarker in treatment monitoring ̶ and indeed should be included in the routine follow-up of these patients.”
“The progressive increase in lyso-Gb1 levels in untreated GD children suggests that these patients should receive enzyme replacement therapy,” added Prof. Ari Zimran MD, Shaare Zedek Medical Center, Hebrew University, Jerusalem, a highly recognized expert on Gaucher disease and contributing author of the study. “This international study has demonstrated a correlation between lyso-Gb1 levels and disease severity among children suffering from Gaucher Disease, and the importance of using this biomarker in monitoring treated and untreated children.”
Gaucher Disease is among the most prevalent, recessively inherited, lysosomal storage disorders that are caused by a deficiency in the enzyme glucocerebrosidase.
The full paper can be downloaded here.