The European Union Committee of Experts on Rare Diseases (EUCERD) adopted a set of Core Recommendations on Rare Disease Patient Registration and Data Collection at its eighth meeting, held in early June 2013. Rare Disease registries are valuable instruments for increasing knowledge on rare diseases, and for supporting fundamental, clinical and epidemiological research, as well as for post-marketing surveillance of orphan medicinal products and medicines used off-label. For people living with a rare disease, as well as for national competent authorities, registries are instrumental in supporting health and social services planning.
The EUCERD Recommendations call for international operability of registries and data bases in order for knowledge and data to be pooled and shared. Rare diseases suffer from fragmented knowledge, scattered expertise and patients, and research duplication. Interoperability on a global scale would enable data to be sufficiently pooled to “reach sufficient statistically significant numbers for clinical research and public health purposes”. Using international coding and nomenclature, minimum common data sets, and good practice guidelines would enhance interoperability and maximise the utility of registries and databases.
The involvement of all stakeholders, including patients, policymakers, researchers, clinicians, and industry in designing, maintaining and governing registries is also called for. Collected data needs to be available to the benefit of public health and research and adaptable for regulatory purposes, including post-marketing surveillance of treatments and observational real life studies. Finally, registries and databases must be financially sustainable.
The publications upon which the EUCERD Recommendation is based include the Joint Declaration of 10 Key Principles for Rare Disease Patient Registries issued by EURORDIS in conjunction with the Canadian Organization of Rare Disorders (CORD) and the National Organization for Rare Disorders (NORD). Other publications include the Reports from previous Workshops of the EUCERD, including one organised by the EUCERD Joint Action in the autumn of 2012, and one jointly organised with the European Medicine Agency (EMA) entitled Towards a Public-Private Partnership for Registries in the Field of Rare Diseases in autumn 2011, which included as a central element the perspective of patient representatives.
Other important sources informing the EUCERD Recommendations include the results of the EPIRARE Rare Disease Registry surveys conducted by EURORDIS for patients – 4000 answers from patients & parents – and by the Istituto Superiore di Sanità for registry managers within the three-year European Platform for Rare Disease Registries (EPIRARE) project.