Watch out for the clinical trial in Gaucher disease conducted around the word at ClinicalTrials.gov.
The group discusses technical and ethical issues associated with the diagnostic process of Gaucher disease, including biochemical and molecular diagnosis, newborn screening, IA, and other diagnostic techniques.
The group will create guidelines for the management and monitoring of GD which can be used internationally to improve experience and outcomes for Gaucher patients.
The group has first discussed extensively that we should move away from “complications’ or ‘co-morbidities’ and define the occurrence of disorders that can be related or unrelated to GD as “additional morbidities”.
Working on projects related to patient care that do not fall under the category of the other working groups.
Discussion of ethical questions relevant to the care of Gaucher patients throughout the world.
Discussing GD’s laboratory aspects, including (but not exclusively): biomarkers, biological materials, NGS technics, abnormalities other than those of the GBA gene, etc.
