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.
I. THE LABORATORY WORKING GROUP
The working group discusses GD’s laboratory aspects, including (but not exclusively): biomarkers, biological materials, NGS technics, abnormalities other than those of the GBA gene, etc. The working group will develop standardization, protocols and research activities, with periodic interaction with clinical WGs.
Standardise materials and biomarkers assays relating to Gaucher diagnosis in our laboratories. The chosen strategy implies the blind analysis of a series of the same samples from GD patients and from controls by the different partner laboratories, then to compare the techniques used and the procedures for rendering results in order to develop homogeneous procedures, and then to re-analyse the same series of samples in order to evaluate the effect of the homogenisation of the techniques
Hans Aerts (Chair) Netherlands
Marc Berger (Chair) France
Maria Blomqvist Sweden
Andrea Dardis Italy
François Eyskens Belgium
Ksenija Fumić Croatia
Simon Heales UK
Martin Hrebicek Czech Republic
Lucia Lacerda Portugal
Laura Lopes de Frutos Spain
Eugen Mengel Germany
Helen Michelakakis Greece
Shoshana Revel-Vilk Israel
Anna Tylki-Szymanska Poland
Two surveys sent to biologists have made it possible to identify the laboratories carrying out the analysis of 1, 2, or 3 Gaucher disease biomarkers, and to identify the referents and contacts for this work and for the centralized shipment of samples from the French biological collection of patients with Gaucher disease.
The choice of the shipping company has just been validated. The contracting is in progress for a shipment of samples during the summer of 2021.
The analyses will be performed in September-October for a report in November.
II. GD DIAGNOSTIC WORKING GROUP
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 (imaging, molecular diagnosis, biomarkers, etc.). The aim is to develop protocols and evidence-based recommendations to best meet the patients’ needs, ensuring timely and accurate diagnosis.
- Clinical signs and symptoms leading to suspect GD diagnosis
- Laboratory diagnosis
- Newborn screening
Magy Abdelwahab Egypt
Hans Aerts Netherlands
Maria Cappellini Italy
Tanya Collin-Histed IGA
Andrea Dardis (Chair) Italy
Ksenija Fumic Croatia
Urh Groselj Slovenia
Lukina Kira Russia
Maciej Machaczka Sweden
Helen Michelakakis Greece
Paula Roszenfeld Argentina
Jasenka Wagner IGA
The group has been working on four topics; (i) clinical signs and symptoms leading to suspect GD diagnosis (ii) GD Biomarkers, (iii) enzymatic activity and (iv) genetic testing. Members have been divided in sub-groups and each one has been working on a specific topic: gathering evidence, formulating evidence-based recommendations, and drafting an evidence-based consensus document using a template recently adopted by the board.
III. MANAGEMENT AND MONITORING WORKING GROUP
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
Objectives:
- To improve access to treatment for all patients
- To reduce health inequalities for GD patients
- To produce guidelines based in available evidence
- To define evidence gaps and a plan for research in relation to gaps
- To create international consensus based in evidence
- To publish guidelines rapidly in an easily accessible open access format
- To simultaneously publish a patient- accessible version of the guidelines
- To publish guidelines in a peer reviewed journal as appropriate
The aim of the adopted methodology is to define the critical needs for guideline statements, to review currently available evidence and to build consensus around statements to ensure wide adoption. The group will understand the need for guidelines to specific problems in the management of Gaucher Disease through surveying our members and affiliated stakeholders. We will then use a synthesis of evidence and consensus to create recommendations which address this need. Areas to be addressed include the use of specific therapies for Gaucher disease in adult and children with both non-neuronopathic and neuronopathic GD. All guidelines will be per reviewed and presented on the EWGGD website
Guidelines for the treatment and monitoring of GD1
Magy Abdelwahab Egypt
Magdalena Ceron Rodriguez Mexico
Michaela Dan France
Paul Guijt IGA
Pilar Giraldo Spain
Derralyn Hughes (Chair) United Kingdom
Istaiti Majdolen Israel
Kartha Reena USA
Andreas Kindmark Sweden
Rodic Predrag Serbia
Ari Zimran Israel
The group has been working on understanding what is most important from our members, colleagues and patients for a guideline. We have been considering the methodology for gathering evidence and creating evidence-based consensus for the various management issues
IV. GD ADDITIONAL MORBIDITIES WORKING GROUP
The additional morbidities working 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”. Next, different topics were discussed that could be prioritized. These include, amongst others, malignancies, bone disease, Parkinson’s disease, metabolic syndrome and fatigue.
Hematological and other malignancies
Hagit Baris Feldman Israel
Maria Camprodon Spain
Margaret Giuliani IGA
Carla Hollak (Chair) Netherlands
Ivana Kavecan Serbia
Patricia Lucki IGA
Eugen Mengel Germany
David Moreno Martinez United Kingdom
Uma Ramaswami (Chair) United Kingdom
Thomas Stulnig Austria
Neal Weinreb United States
The first project that we focus on is: “Hematological and other malignancies”. We hope to produce a first draft of the consensus document which describes the epidemiology with practical guidelines for surveillance
V. SUPPORTIVE CARE WORKING GROUP
The supportive care working group works on projects related to patient care that do not fall under the category of the other working groups. The aim is to develop patient-centric guidelines.
- Supportive and symptomatic care, focusing on adults, children, and women-related issues for type 1 and neuronopathic GD
- The transition of care from childhood to adulthood and care coordination
- Patients reported measurement outcomes (PROMs)
- Self-management
- Home therapy
Magy Abdelwahab Egypt
Vesna Aleksovska IGA
Nadia Belmatoug France
Francesca Carubbi Italy
Daniela Castillo-García Mexico
Tanya Collin-Histed IGA
Paul Guijt IGA
Beata Kieć-Wilk Poland
Uma Ramaswami United Kingdom
Shoshana Revel-Vilk (Chair) Israel
Christine Serratrice Switzerland
Karolina M Stepien United Kingdom
Irena Znidar IGA
The EWGDD Gaucher supportive care working group have been working on four related topics; the first is supportive and symptomatic care, focusing on adults, children, and women-related issues, the second is the transition of care from childhood to adulthood and care coordination, the third is patients reported measurement outcomes (PROMs), and the fourth is self-management. Each subgroup is working on writing a guidelines document using a template recently adopted by the board
VI. ETHICS WORKING GROUP (joined with IGA)
The ethics groups will arrange discussion of ethical questions relevant to the care of Gaucher patients throughout the world. A Preliminary meeting between the IGA and EWGGD boards occurred. Anyone interested should get in touch with Derralynn or Tanya and we will be providing further information on the program of talks and discussions later in the year.
Information to come
Information to come
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