©2013 Farmer et al.; licensee BioMed Central Ltd.
EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome
1Birmingham Children’s Hospital, Steelhouse Lane, Birmingham B4 6NH, UK
2INSERM - SC11, Platforme Maladies Rares, 96 Rue Didot, Paris 75014, France
3IDIBELL, Hospital Duran i Reynals, 3ª Planta, Gran Via de L’Hospitalet, 199, E-08907- L’Hospitalet de Llobregat, Barcelona, Spain
4Centro de Investigación en Red de Enfermedades Raras (CIBERER), U-730, Hospital Duran i Reynals,3ª Planta, Gran Via de L’Hospitalet, 199, E-08907-L’Hospitalet de Llobregat, Barcelona, Spain
5Section of Genetics, Phisiological Sciences II Department, Medicine Faculty of Bell vitge, University of Barcelona, Feixa Llarga, sn. 08907 L’Hospitalet de Llobregat, Barcelona, Spain
6Department of Medicine, Università degli studi di Padova, Via Giustiniani 2, Padua, Italy
7National eScience Centre, 246D, Kelvin Building, Glasgow G12 8QQ, UK
8Department of Paediatrics, Medical University of Lodz, 4 Kosciuszki Avenue, Lodz PL-90-419, Poland
9Alström Syndrome UK, 49 Southfield Avenue, Paignton, S. Devon TQ3 1LH, UK
10IRCAN UMR7284 / INSERM U1081 / UNS, UFR Medecine, Universite Nice Sophia-Antipolis, NICE cedex 2 06107, France
11Centrum für Reproduktionsmedizin und Andrologie, WHO Kollaborationszentrum, EAA, Ausbildungszentrum, Universitätsklinikum Münster, Domagkstraße 11, Münster 48149, Germany
12The University of Melbourne, Level 3, Doug McDonell Building, Parkville VIC 3010, Australia
13Tartu University Children’s Hospital, Lunini 6, Tartu 51014, Estonia
14Department of Audiology, H:S Bispebjerg Hospital, Bispebjerg Bakke 23, Copenhagen, NV DK- 2400, Denmark
15Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine (ICMM), The Panum Institute, University of Copenhagen, Blegdamsvej 3, DK-Copenhagen N, Denmark
16School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham B15 2TT, Edgbaston, UK
Received January 31, 2013; Accepted July 26, 2013.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0
), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
A common core dataset for European Union states has been developed that can be shared between national rare disease registries as they are established; and will allow linkage with other international disease registries. Agreement on this core dataset for WABB and other very rare diabetes syndromes is essential in order to compare data between national registries, link registries and to identify subgroups of patients that may be eligible for clinical trials or to prioritise genes for mutation searches.
Achieving true Europe-wide collaboration may prove challenging. High usage of the registry will be achieved by linking it to rapid genetic testing; and to up to date, accurate information, FAQS, and education material. Additional awareness raising activities such as dissemination of promotional materials and the development of a multi-language project website (http://www.euro-wabb.org
) and dissemination of promotional materials will also be undertaken to help to overcome this challenge.
To encourage maximum participation by health professionals, and in recognition that not all partners will want others to see anonymised clinical data on their own patients, we have included an option to restrict access to their own data. We sincerely hope that most clinical partners will allow their anonymised data to be shared with bona fide researchers working on approved study protocols. Any group of researchers or a pharmaceutical company can apply to the Project Steering Group for access to data in the registry to investigate one or more of these diseases. If permission is granted, then data can be made available on all those patients for whom the clinical partner has granted permission to share data. The data can be restricted to one particular rare disease, to the core datasets, or to system specific data for instance endocrine, cardiac or genetic data.
There are some existing registries for these diseases, based in North America. There are also subspecialty specific databases, that have good penetration with certain groups of health professionals. Euro-WABB has good penetration with endocrinologists, diabetologists and geneticists. There are other registries, such as for deafness, that may also include affected patients with these conditions. In addition, some patient groups set up their own disease registry. Pharmaceutical companies may develop a disease specific registry to determine natural history and monitor outcomes of novel treatments. There may be a case for a specific rare disease to be included in more than one registry, in order to maximize penetration among different interest groups. Given the ultra-rare nature of these diseases, it is important that all anonymised data is shared for maximum patient benefit. To this end we have included on the consent forms, specific consents to allow sharing of data with national, European, and other international disease registries. It is hoped that use of the ICD10 codes, will support shared definitions of symptoms to allow comparison and pooling of data between registries.
It is also recognized that there will need to be more than one entry route to achieve maximum participation in this European registry. Some affected families will research their own condition through internet search engines and find the European registry. We have therefore incorporated a route to allow patients to self register and submit core data and quality of life data about themselves. By asking for contact details for their local doctor, we hope to be able to approach that person to invite to participate as a clinical partner.
We believe in principle that patients should be able to see what data is held on themselves, but not other patients, electronically. We have consulted widely with patient groups and therefore have incorporated a secure system to allow patients to see their own core data online. The extended dataset includes data that is more complex, and may require some explanation by the local physician. We therefore encourage patients who would like to see their own extended dataset, to approach their local physician to view this.
In line with existing evidence and recommendations highlighting that rare disease registries can lead to improved recognition, correct diagnosis, and earlier treatment for patients [30
], it is hoped that Euro-WABB will lead towards quality of life improvements through earlier diagnosis, prompt identification and management of complications. The registry will develop collaborative links which will be the precursor to a European Reference Network for these diseases.