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Platform of information services for the coordination of rare disease research with various stakeholders from research, SMEs and patient organisations and the coordination of early clinical trials

Final Report Summary - ORPHANPLATFORM (Platform of information services for the coordination of rare disease research with various stakeholders from research, SMEs and patient organisations ...)

The project aimed at developing information tools to address in a comprehensive and integrated approach the set of factors that currently affects research on rare diseases and its coordination. The specific objectives were:
(1) to develop an information service, freely accessible on internet, dedicated to research activities in the field of rare diseases and orphan medicinal products, including a database of research projects, funded at Member State level and at the EU level, and a database of collections and research networks;
(2) to develop services aiming at speeding up the enrolment of patients in clinical research;
(3) to develop a database of research projects with development potential, to help scientists and Industry establish the necessary partnerships;
(4) to organise a workshop with all stakeholders to discuss known bottlenecks and find solutions.
The project aimed at establishing the platform of services in 11 European countries in the pilot phase in order to propose an extension to the 25 European countries in 2006. Ultimately, the goal is to convert scientific developments in the field of rare diseases into diagnostic tools and therapies as quickly as possible.

The first subproject was to extend the Orphanet directory of services in order to provide accurate information on on-going research activities at the Member States level and at the EU level, in a format easy to use for researchers, clinicians, industry, patients, administrative bodies and any decision-maker. The lists of research funding agencies and the sources to identify research projects in the Orphanet partner countries have been established. Collection of projects published on the DG SanCo and the DG Research websites was performed by the coordinating team and specific information sent to corresponding country partners. All the national agencies were contacted to obtain lists of funded research projects. The ones in relation with rare diseases were selected and the researchers approached to give more details on their project and to give consent for the publication on the Orphanet website, using a standard questionnaire translated in all necessary languages. This questionnaire was available as a PDF document but also online.

The second subproject was to develop a new facility to allow patients to find out whether there is a clinical research project on their disease, which they could participate in. The service to allow patients to register as volunteers for participating in clinical trials was launched in French and English on January 2005 and in German, Spanish, Portuguese and Italian six month later. It had received an approval from the National Committee on Informatics and Liberty (CNIL) in France as the personal data are stored in France.

The third subproject was to identify, among all the research projects listed in the database, the research projects which reach a stage at which they can be carried out by an industrial company or form the basis for a start-up company, and be developed into a commercial product or technics. These projects were made accessible and visible on the OrphanXchange website, a separate website from Orphanet but with functional links. The two projects would share part of the Orphanet database but the front ends would be different. The necessity to have a separate website came from the fact that the OrphanXchange website had to be password protected when the Orphanet website is fully accessible without any registration.

The fourth subproject was to organise a partnering workshop during the second year of the contract. There is a strong view that additional action needs to be taken to energise and expedite the development of therapies and suitable diagnostics for rare diseases. A workshop was needed to exchange views and explore options for facilitating the development of therapies and identify research projects in advanced stages. The workshop took place in London on 25-27 October 2005. The total number of participants was 150, composed of a third of patients representatives, a third of industry representatives and a third of researchers and health professionals. It was organised in collaboration with the FDA, the NIH, the EMEA and American and European patients organisations, and was co-sponsored by the British Department of Health as well as by industry. The programme is available on-line at http://www.epposi.org.

The project will benefit to paediatric drugs and cancer treatments development. This represents another major public health objective for the EU on which the European Commission envisages specific regulatory and research initiatives. 80 % of rare diseases appear at an early age and are directly responsible for 25 % of the mortality in childhood. Experience gathered in the United States and in Europe also shows that around 40 % of orphan medicinal products are new and innovative products for cancer and leukaemia treatment.

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