Edition of 14 July 2005

The third meeting of the Rare Diseases Task Force was held on 20 June in Luxembourg. Members approved a final version of the Task Force mandate and discussed future plans for the Task Force work programme which will mainly take place through expert working groups.

Juliette Bloch from the French national institute for health surveillance (INVS) in Paris presented a model for public health indicators for rare diseases which she is setting up in France, in the context of the National Plan for Rare Diseases. The INVS will be collecting epidemiological data on a limited number of rare diseases from national centres of reference, registers, administrative databases, death certificates, hospital records, inscriptions on long-term illness lists and from institutions managing disability allowances. Currently the INVS is using a process of expert consensus to elaborate a list of criteria on which to determine which diseases should be given priority for public health monitoring. This work will feed into a Task Force Working Group on public health indicators which will identify strategies allowing comparisons to be made between health indicators for rare diseases in different European countries. This Working Group, led by Juliette Bloch, will start work in the autumn.

Ségolène Aymé, the Task Force leader, presented the work plan of a second Task Force Working Group, on coding and classification, which is in the process of being set up. This Working Group will work in close collaboration with the WHO to propose an extension of the ICD-10 classification incorporating rare diseases. The group will identify the rare disease community’s needs in coding and classification and collect existing expert classifications serving a specific purpose but which may have wider applicability. In the early stages of this Working Group there will be close collaboration with the working group on public health indicators.

Dr Aymé also presented the Working Group on standards of healthcare which met on 3 June in Paris to discuss the concept of European centres of reference for rare diseases. A full report of the meeting is available here, along with presentations given by representatives from Denmark, France, Italy, Spain and the UK. The work of this group is being fed into a High Level Group set up by the Commission to debate the issue of centres of reference more widely and for which rare diseases is being taken as a model. This high level group met on 16 June in Brussels where the Task Force Working Group was officially mandated to continue investigating this theme on behalf of the High Level group.

The Task Force members also agreed to tackle the subject of genetic testing for rare diseases in Europe in response to a request from DG Research, and data confidentiality, which is relevant to many of the issues already being studied by the Task Force.

Any readers who feel that they could usefully contribute as experts to any of these Task Force Working Groups should contact the RDTF secretariat.

A full report of the 3rd Task Force meeting will soon be available on the RDTF website.

Translating academic research into safe and effective innovative treatments for patients is a particular challenge where the treatment of rare diseases is concerned. By definition the patients affected are small in number and geographically dispersed and whilst an effort has been made, through the EU orphan drugs regulation, to encourage pharmaceutical companies to develop specific drugs for these disorders, clinicians are still faced with enormous challenges in mounting clinical trials to test their safety and efficacy. As in many other areas of rare disease research one of the solutions lies in networking.

This spotlight features two recent European initiatives which aim to promote increased networking between stakeholders in the field and an interview with Dr Bruce Morland, a practicing clinician in the UK whose research is centred on clinical trials for rare childhood cancers.

The OrphanXchange project: strengthening co-operation between Academia and Industry

Culturally, researchers have little experience of technology transfer and although multiple opportunities exist they generally suffer from a lack of visibility. With this in mind, the European portal of rare diseases and orphan drugs, Orphanet, set up the OrphanXchange project one year ago to highlight opportunities and facilitate collaboration and partnership between academia and industry in the field of rare diseases.

With support from Orphanplatform, a European Union project (FP6, DG Research, contract LSSM-CT-2004-503246), this dedicated service is a tool to boost the development of diagnostics and therapeutic products. The website www.orphanxchange.org is a market place of innovative research projects and potential orphan designations that are of interest to pharmaceutical and biotech companies. Registered users can search the database for specific projects and directly contact investigators wishing to turn their research into a marketed product.

Currently, registered users come from 25 different countries (Europe, USA, Japan, Brazil, India…) with half representing the private sector: big Pharma as well as SMEs, biotech, venture capitalists and consultants.

OrphanXchange is playing a pivotal role in facilitating co-operation between industrial companies and researchers for the rapid setting up of clinical developments.

European Clinical Research Infrastructures Network (ECRIN)

Differences in health and legislative systems in Europe have led to a fragmented clinical research effort which reduces the capacity to enrol patients in clinical studies, increases the costs of clinical research, and hampers scientific productivity. For academic infrastructures of clinical research and investigators doing multinational studies in Europe, fragmentation raises obstacles - such as informed consent, ethical review, data monitoring, adverse events, insurance - creating bottlenecks along the way.

The ECRIN project launched in 2004 and funded through the EC’s Sixth Framework Programme (contract LSHM-CT-2004-511963), was designed to bridge such fragmented organisation and to improve the quality and efficiency of clinical research in Europe. The project aims to provide an infrastructure allowing for bottom-up harmonisation of support, training, and practice of clinical research in Europe, based on the interconnection of national networks of clinical research centres and trial units. A major objective of ECRIN consists of stimulating and facilitating the creation of new centres and national networks, especially in the new member states, for their subsequent connection to the European network and building the necessary critical mass at the European level.

ECRIN also plans to provide support for public sponsors of clinical trials whose role as a single sponsor in multinational studies is made increasingly complex through the implementation of the EU Directive 2001/20/EC on clinical trials. This support is particularly important in the field of rare diseases and orphan drugs where transnational co-operation is essential and where trials are often beyond the scope of industry investment.

ECRIN currently covers six European countries (Denmark, France, Germany, Italy, Spain, Sweden) and Canada, in association with the European Forum for Good Clinical Practice, with plans to extend to other EU member states.