The current EWGGD-WGs list has been constructed to avoid the generation of too many small WGs. Boarder topics have been chosen in which sub-groups can work on particular aspects of the theme. Some sub-groups topics may, if applicable, develop to become a stand-alone WGs. Please refer to the EWGGD Working Group policy for further information.

You are invited to join one or more working groups; please join by completing the form in the relevant working group below.

Diagnostic of Gaucher disease

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

Management of type I Gaucher disease

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

    EWGGD GD1 GUIDELINES 

    The EWGGD and IGA recently co-hosted a webinar to set the scene to explore what should be included in new international patient centric guidelines for Type 1 Gaucher disease.  The webinar recording can be watched here 

    Following this, five major topics were identified.

    If you would like to get involved, please complete the following form to let us know what role(s) you are interested in.

     

    Coming soon

    Coming soon

    Management of type III Gaucher disease

    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

    Laboratory working group

    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.

    Hans Aerts Netherlands
    Marc Berger France
    Laura Lopes de Frutos Spain
     Dulce Quelhas Portugal
    Simon Heales UK
    Martin Hrebicek Czech Republic
    Anna Tylki-Szymanska Poland
    Shoshana Revel-Vilk Israel
    Andrea Dardis Italy
    Eugen Mengel Germany
    François EYSKENS ? Belgium
    Maria Blomqvist Sweeden
    Helen Mikaki Greece

    Coming soon