The working group will develop policy statements and protocols related to the technical and ethical issues associated with the diagnostic process, including newborn screening, IA, and other diagnostic techniques (imaging, molecular diagnosis, biomarkers, etc.). The working group will also develop policy statements and management recommendations for individuals diagnosed through these methods and suggestions for counseling (prenatal, carriers, and patients).

Coming soon

Coming soon

Coming soon

The working group will identify unmet needs for patients with type I GD and will develop policy statements, protocols, recommendations and research activities.

Coming soon

Coming soon

Coming soon

The working group will identify unmet needs for patients with type III GD and will develop policy statements, protocols, recommendations and research activities.

The working group will identify unmet needs for patients with type III GD and will develop policy statements, protocols, recommendations and research activities.

Coming soon

Coming soon

The working group will discuss GD’s laboratory aspects, including (but not conclusive): biomarkers, biological materials, NGS technics, abnormalities other than those of the GBA gene, etc. The working group will develop standardization statements, protocols and research activities.

Biomarkers & Materials

Three main circulating biomarkers of Gaucher disease (GD) have been identified, chitotriosidase, CCL18, and glucosylsphingosine, and they are variably used by GD specialists in the clinical practice. The first two are considered as indicators of Gaucher cell burden, whereas the last one is produced by several cell types in response to the metabolic alteration induced by glucocerebrosidase deficiency. Many studies have reported that their concentration decreases during enzyme replacement therapy; however, this is not considered a major criterium of therapeutic response. Moreover, the concentration of these biomarkers has not been integrated in most prognostic scores, particularly due to their variability. Although these biomarkers have been monitored for a long time (particularly chitotriosidase and CCL18), we presently do not have robust evidence to choose one of them, and we do not know their possible usefulness to identify specific phenotypic subgroups of GD.

The interpretation of GD biomarker data is difficult for different reasons, such as:

1) Genetic polymorphisms in the tested biomarker (as described for chitotriosidase);

2) Difficulty in studying large cohorts for a rare disease like GD;

3) Lack of studies on all three biomarkers and with accurate clinical-biological data;

4) Variability in the techniques/protocols used to collect data, hampering the constitution of an international large GD cohort.

To make progress in the field of GD biomarkers, one of the priorities of the working group is to start an international working group that should promote testing homogenization (at least to allow comparing data obtained in different centres). Ultimately, this might allow building a sufficiently large cohort in which all three markers can be analysed. Second, a sufficiently documented biological collection could help to identify new biomarkers (for example, markers associated with specific symptoms).

To reach these goals, inter-laboratory work and collaboration will be necessary from the beginning. Comparing our practices should allow us to move towards the desired standardization of techniques and results. This survey is the first step in this approach. Its aim is to establish a “snapshot” of the existing situation. We thank you for participating in this EWGGD working group that is vital for progression in the field of laboratory biomarkers of GD.

Coming soon