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1st EB-CLINET Register Workshop

On 4-5 April 2013, the 1st EB-CLINET Register Workshop was held in Vienna. It formed the starting point for the creation of an international EB register to facilitate patient recruitment for clinical trials, improve EB diagnostics, disease course prediction and genetic counselling.

EB-CLINET - the Clinical Network of EB Centres and Experts - is a platform that offers the opportunity to work collaboratively on a number of projects, including professional training, clinical practice guidelines, clinical trials and an international EB register. By April 2013, the network counted 51 partners from 43 countries.

One of the priorities within EB-CLINET is the construction of an international EB register. Such a register is crucial for several reasons:

  • Firstly, as explicitly expressed by DEBRA International, there is the wish and need for an easy and reliable tool to facilitate the selection of patients who could participate in clinical trials based on certain specific genotypic or phenotypic characteristics. An international EB register could provide this tool and this purpose has therefore been defined as a major objective of the register.
  • Secondly, it enables the best possible delineation of the genotype-phenotype correlation for all EB types, which improves EB diagnostics, disease course prediction and genetic counselling.
  • Thirdly, it allows the determination of the natural disease history for the different EB types.

An EB register supporting all these issues will greatly benefit clinicians and researchers, but most of all the patients.

Organised by Dr. Gabriela Pohla Gubo (Academy, EB House Austria), supported by DEBRA Austria and guided by Dr. Peter van den Akker (Groningen, Netherlands), the meeting brought together 14 participants from 8 countries for two days to discuss and work out the first questions that need to be answered before such a register can be established. Participants from different fields and backgrounds in the rare disease area, as well as those involved in EB and having experience with some kind of EB registries, discussed the first important questions such as:

  • What should be the purpose of an international EB register?
  • Who are the different parties (stakeholders) that should be involved?
  • What especially do these stakeholders need from an EB register?
  • Which data should be included minimally to fulfil the purposes of this register?
  • What are the technical aspects?

One of the most urgent conclusions was that a written consent from patients is inevitable for the inclusion of any data in any register, a topic that will be addressed further in the short term, within the working group.

Another major issue – crucial to the success of the project – was the issue of financial restrictions that may dominate developments and decisions. The meeting was concluded by defining a work plan that will be further discussed between the participants and presented during the 2nd EB-CLINET Conference in Salzburg, on 17-18 September 2013.

Group picture of the participants of the 1st EB-CLINET Register Workshop

FLTR: Morris Swertz (NL), Stephen Lynn (UK), Peter van den Akker (NL), Celia Moss (UK), Helmut Hintner (AT), Lawrence Charnas (US), Luciano Vittozzi (IT), Gabriela Pohla-Gubo (AT), Katarzyna Wertheim-Tysarowska (PL), Giovanna Zambruno (IT), Monica Ensini (FR), John Dart (UK), Cristina Has (DE)