A multicenter academic biological working group has been established under the aegis of the IWGGD to standardize the quantification of GD biomarkers and foster collaborative research in this rare disease field.
The primary objectives are:
To create an extensive inventory of differences in biomarker measurements across participating centers.
To develop solutions for harmonizing biomarker assays to ensure comparability and reliability of results.
The working group was originally initiated under the leadership of H. Aerts and M.G. Berger, together with biologist representatives from nine participating countries. Their efforts laid the foundation for several key initiatives:
Surveys
Identification of biologists and biobank managers at each site.
Documentation of techniques used and results obtained across centers.
Inter-Laboratory Sample Testing
Distribution of a series of 10 anonymized samples (5 GD patients and 5 healthy donors) from the French GD biobank to 10 European laboratories for initial blinded biomarker assays.
Standardization Phase
Re-analysis of the same samples following agreed standardization of techniques and/or results, with the aim of assessing and reducing inter-laboratory variability.
| Magali Pettazzoni (Chair) – | France |
| Irene Serrano-Gonzalo (Chair) – | Spain |
| François Eyskens – | Belgium |
| Amber Van Baelen – | Belgium |
| Ksenija Fumić – | Croatia |
| Martin Hrebicek – | Czech Republic |
| Marc Berger – | France |
| Roseline Froissart – | France |
| Helen Michelakakis – | Greece |
| Evangelia Dimitriou – | Greece |
| Andrea Dardis – | Italy |
| Jessica Biasizzo – | Italy |
| Hans Aerts – | Netherlands |
| André van Kuilenburg – | Netherlands |
| Marta Artola – | Netherlands |
| Dulce Quelhas – | Portugal |
| Lucia Lacerda – | Portugal |
| Maria Blomqvist – | Sweden |
The Biomarkers and Biomaterials IWGGD Working Group has now identified three subjects of interest that form the core of its ongoing activities:
Standardisation of techniques
Analysis of shared sample series revealed significant differences in biomarker values between laboratories for chitotriosidase, Lyso-GL1, and CCL18.
An evaluation of inter-laboratory variability and a comparison of analytical techniques has been performed.
Reference values
Reference ranges are being optimized by sharing experience and samples across different centers.
Use of DBS
A multicenter study is being initiated to explore the use of dried blood spots (DBS) in GD diagnosis.
The group continues to advance this ambitious project under the guidance of its new chairpersons, building on the foundation established by its previous leaders.
