Donation Account: IBAN AT656000000510045254, BIC BAWAATWW, EB-CLINET, DEBRA International, Am Heumarkt 27/1, 1030 Vienna

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The EB-CLINET Registry Project

EB-CLINET 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 registry.

One of the priorities within EB-CLINET is the construction of an international EB registry. Such a registry 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 registry could provide this tool and this purpose has therefore been defined as a major objective of the registry.
  • 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 registry supporting all these issues will greatly benefit clinicians and researchers, but most of all the patients.

Five general aims of EB registries have been identified:

1. Recruitment for clinical trials
2. Genotype - phenotype correlation
3. Natural history of disease
4. Biobanking
5. Epidemiology

A number of challenges were recognised:

· Funding
· Consent
· Legislative differences
· Data sharing agreement
· Data synchronisation
· Access
· Connecting local databases

To date an EB-CLINET registry project has been addressed at four meetings:

· Registry workshop, Vienna - 2013
· EB-CLINET conference, Salzburg - 2013
· EB-CLINET conference, London - 2015
· EB registry meeting, Dublin - 2016 read more