July 11, 2013
The Spanish Rare Diseases Registries Research Network (SpainRDR) is a 2.4 M€ project financed by the Institute of Health Carlos III (ISCIIII) for the years Dec, 2011 to Dec, 2014.
This project involves all Health Departments of the Autonomous Communities (regions) of Spain, the Institute of Rare Diseases Research (IIER) which acts as a coordinator and leader of the network, the Spanish Ministry of Health, the Spanish Centre of Reference of People and Families affected by RD (CREER), six Spanish Medical Societies,four research networks, pharmaceutical and biotechnological organizations (ASEBIO and FARMAINDUSTRIA), and the Spanish Federation of RD (FEDER) and its foundation (FEDER TELETHON FOUNDATION).
Interview of Dr Manuel Posada, coordinator of the Spanish Rare Diseases Registries Research Network (SpainRDR)
IRDiRC: What is the main problem that you will tackle?
Dr Manuel Posada: I am tackling Rare Diseases Registries as I am an epidemiologist with a large experience in registries. Registries are key instruments for developing RD centered clinical research, enhancing patient care and health planning, and improving social, economic and quality-of-life outcomes. Indeed, they serve as a recruitment tool for the launch of studies focusing on disease aetiology, pathogenesis, diagnosis or therapy. Registries are the best way of pooling data to achieve a sufficient sample size for epidemiological and/or clinical research.
For example, my colleagues and I have developed a large population-based registry with more than 20.000 people for the toxic oil syndrome. Each patient of this registry has been followed-up yearly for more than 30 years, and both major health risks and cause of death are registered.
In Spain, there is a need to share standard data in a comparable and useful way for local, regional and national level with the purpose of monitoring, updating and disseminating RD situation. The origin of that need is the existence of barriers in the use of health information.
IRDiRC: What is the concrete solution that you have selected? What are the steps? At what stage are you today?
Dr Manuel Posada: SpainRDR aims to develop a national strategy in Spain to build the National Rare Diseases Registry: a tool to provide data for health-policy decision-making and clinical research. Currently, most information is locked in many different sources and is difficult to access, which makes it impossible to have a vision of the burden of rare diseases, to improve our knowledge about them and to plan services.
Our project aims to have a central platform providing access to this information. The data are expected to come from two types of sources. The first one is population-based registries already set up by the autonomous regions for epidemiological research and social-health planning. The second one is disease registries already set up by clinical or research groups for a specific disease or a group of diseases.The first strategy is managed by the Spanish regions and the second one by the rest of the partners. Patients can also register themselves, or be registered by their tutors, but this process only includes the registration of personal data and the name and coding of the disease. In that case, patients will receive their own user identification and password, allowing them to access the internal site (for example to read news about their disease) and determine if they want to participate in research, and how they want to participate.
Concretely, we are identifying precisely all these potential sources, negotiating with them which data to import, how to import the data and how to harmonize the data collection among the various regions. This is going to be a long process but we hope to have some pilot results in selected areas by the end of this contract.
So far, all methods have been developed and a pilot study is being conducted involving population-based methods. Regarding disease registries, we have signed an agreement with six medical societies, two researcher networks, two consortia of pharmaceutical industries and also with FEDER. After these agreements several databases for RD have been developed and implemented in the central repository at the ISCIII. Some of them are starting to be active and cases are being registered by professionals.
Also, at the moment several disease registries are committed to work with SpainRDR in the area of Prader-Willi, Differentiation Sexual Disorders, bradikinin mediated angioedema, spinocerebellar ataxias, McArdle disease, congenital and rare anaemias, to cite only a few.
For the collaboration with autonomous regions, all of them have already agreed to collaborate, which is a good start, and 10 of them have sent preliminary data corresponding to 2010-2011 years.
The IT tools are developed by the IT department of the Institute Carlos III, based on the long experience of the institute in monitoring large cohorts.
Much work remains to be completed and we know that we will face major challenges, but there is such a need for these data that we will do everything possible to make information on rare diseases visible and usable.
IRDiRC: What can the patients, the clinicians or other stakeholders expect at the end of the project?
Dr Manuel Posada: All stakeholders can expect data on the frequency of RD at national level, a specific follow-up with specific aims, including orphan drugs effectiveness of some RD. Industry will have information for their internal planning, as well as the national health system. On the other hand, patients can apply their own criteria for their own areas of interest.
IRDiRC: How is SpainRDR contributing to reaching the goals of IRDiRC by 2020?
Dr Manuel Posada: SpainRDR is included in the framework of RD registries. As we participate to the IRDiRC WG on registries and natural history of diseases, and we collaborate with RD similar projects (such as EPIRARE and RD-CONNECT), we can provide our expertise in this field as well as data which could be integrated in a wider strategy. From the patient registries perspective, SpainRDR will provide information that could be useful for different studies, samples of its biobank and criteria for new research studies.
IRDiRC: Where does this project position itself in this particular field at the international level?
Dr Manuel Posada: To my knowledge, SpainRDR is a challenging project because it will harmonize and join several areas of interest with the idea of providing integrated information. SpainRDR can be a pilot experience with its integrative methodology. It also may serve for other similar developments.
Dr Manuel Posada on behalf of SpainRDR.
Visit the website for more information on SpainRDR