Update about rare diseases from Orphanet

BUS is a member of Orphanet. Orphanet is the European reference portal for information on rare diseases and orphan drugs, for all audiences. Orphanet’s aim is to help improve the diagnosis, care and treatment of patients with rare diseases.

As you know, Birdshot is a rare disease and sometimes, this makes it difficult to get the appropriate medication as it is not licensed for our disease. BUS is working with Rare Disease UK to try and get a ‘rare disease’ strategy implemented in the UK by 2013. With this in mind, BUS and Rare Disease UK met with Dr Edmund Jessop, who is the medical advisor to the part of the health service that looks after rare diseases and he is also the UK representative to the new European Committee of Experts on Rare Diseases (EUCERD). All these organisations are working hard to make sure that any rare disease strategy really addresses the needs of us as patients. The meeting with Dr Jessop was really productive, and he was impressed with the way that BUS, in partnership with the NHS, is tackling the issue of research and less toxic medication regimes.

You might be interested in reading the report from Orphanet – it is another step towards us (people with rare diseases) getting a better deal from the NHS!


“2011 was a satisfyingly busy year for the rare disease and orphan drug community which saw several major initiatives move forward efforts to understand, diagnose and treat rare diseases. Members of the European Union Committee of Experts on Rare Diseases (EUCERD) were grateful to play a pivotal role in several key areas, including participation in the International Rare Disease Research Consortium (IRDiRC), a recently-formed initiative that brings together international regulatory agency stakeholders, researchers, patient group representatives, members of the biopharmaceutical industry, and health professionals to harmonise, coordinate and accelerate research.

The EUCERD contributed several key documents this year, including the Recommendations on Quality Criteria for Centres of Expertise for Rare Diseases in Member States which guides European Union (EU) Member States (MS) in the development of centres of expertise, and the sweeping three-part 2011 Report on the State of the Art of Rare Diseases Activities in Europe. The EUCERD priorities also focused on issues relating to registries for rare diseases, health indicators, and reference networks. EUCERD has recently put several new reports online including the EUCERD/EMA Workshop Report of 4 October 2011 and the EUCERD 3rd Meeting Public report

National and European policy developments

On the political front, there were many noteworthy events this year. The International Rare Disease Day, created, organised and promoted by European rare disease patient umbrella group Eurordis, virtually exploded in 2011 with a frenzy of activity around the world. Held the last day of February, this year’s event was celebrated in 55 countries – up from 46 in 2010, 30 in 2009 and 18 the first year. Newcomers included Armenia, Iran, Mexico, Morocco, Nepal, Panama, Peru, Thailand, the United Arab Emirates, and Uruguay. The special day for rare disease patients, their families and all those who are involved in rare disease research, policies, treatment and care was the occasion for several significant actions.

At the European level, the long-awaited (and much debated) Cross-Border Healthcare Directive was adopted this year on Rare Disease Day, facilitating cooperation and improving equity in access to rare disease diagnostics and treatments throughout the European Union (EU). Also published on Rare Disease Day, the European Awareness of Rare Diseases Report presented the results of a Eurobarometer survey gauging the awareness for rare conditions as well as the level of public support for European-level measures. The survey, in the form of questionnaire, was undertaken in each of the 27 European Union Member States, with approximately 1000 citizens from each country participating, for a total of 26,574 interviews. While there were “significant differences” in awareness between the Member States, some “…95% of respondents believe there should be more European cooperation in this area and that rare disease patients should have the right to access appropriate care in another Member State”.

At the national level, Rare Disease Day was also the occasion for unveiling the Second French National Plan for Rare Diseases. Building on the achievements of France’s first National Plan for Rare Diseases – which as the first of its kind in the world, has become an international model – the second plan is streamlined to perform as efficiently as possible, with three central axes: Improving the quality of patient care; Developing rare disease research; and Expanding European and International cooperation. Other advances in the development of rare disease national strategies, which the Council Recommendation on an Action in the Field of Rare Diseases urges EU member States to accomplish by the end of 2013, include the issue of the final report Recommendations and Proposed Measures for a Belgian Plan for Rare Diseases, which was submitted to the Belgian Minister of Social Affairs and Public Health in October. Meanwhile, Austria, Poland, Serbia, Slovenia and Sweden have recently embarked upon the process of developing a national plan for their rare disease patients, and Switzerland is moving forward a project to develop a national strategy for reimbursing rare disease medicinal products.

Other key developments in Europe in 2011 include the launch of the EU Clinical Trials Register, allowing public access to information on any of the thousands of authorised clinical studies for medicinal products in the EU. Rare disease patient organisations and researchers campaigned for such a mechanism for years, in order to reduce duplication of effort and allow patients to see what progress is being made in their specific areas. The Clinical Trials Register provides information on clinical trials for medicinal products either with or without a marketing authorisation and offers access to information extracted from EudraCT – the database for all clinical trials commencing in the Community from 1 May 2004 onwards and only accessible to national drug agencies up to now.

Another triumph this year was the official recognition of clinical genetics as a specialty in the EU. Such recognition is critical both for the training of professionals and the organisation of related services. Only a few EU countries have not yet officially recognised clinical genetics as a specialty. The respective EC Regulation No 213/2011 amending Annexes II and V to Directive 2005/36/EC of the European Parliament and of the Council on the recognition of professional qualifications entered into force on 4 March 2011.

EMA, orphan drugs, and the biopharmaceutical industry

In the area of orphan drugs, the Committee for Orphan Medicinal Products of the European Medicines Agency issued 111 positive opinions for orphan designation. In 2011, 97 orphan designations have to date been granted by the Commission. Five orphan drug products received marketing authorisation in 2011. Also, the EMA this year issued its first positive opinion specifically for a paediatric marketing authorisation. The EMA also geared up a process in 2011 that would make prevalence figures for rare disease products transparent.

There were also positive actions on the part of industry, with several of the “big pharma” companies taking an active interest in orphan medicinal products and adding to their portfolio strategies. Meanwhile, many innovative advances were also seen from the cutting-edge small and medium-sized enterprise sector. The increasing involvement on the part of the biopharmaceutical industry is exciting news for academic researchers, health professionals, and patients.

Orphanet in on the action

In 2011, the Orphanet Joint Action launched the rare disease and orphan drug information portal into a new dimension. This instrument, which combines funding from the European Commission with each of the participating Member States, as well as from Switzerland, a collaborating partner, permits Orphanet to improve its offer in the EU and beyond. Another exciting development for Orphanet in 2011 was a partnership developed with Canada, extending Orphanet across the Atlantic for the first time. Negotiations are also ongoing with Japanese and Chinese stakeholders to explore the possibility of launching Orphanet into Asia, as well as with Brazil and Australia.

Other advancements in which Orphanet participated include its ongoing work with the Topic Advisory Group (TAG) for Rare Diseases for the World Health Organization, in the revision of the International Classification of Diseases, to produce its eleventh version (ICD-11). The main purpose of the TAG for Rare Diseases is to enhance the visibility of rare diseases in information systems using the ICD – notably for patient coding. Rare diseases have now been included in almost all the chapters of the ICD in preparation.

2011 rare disease funding opportunities

In July 2011, the European Commission released the content of its new call for proposals, which opened several opportunities for rare diseases. Other funding resources for rare diseases include E-Rare, the ERA-Net on rare diseases, supported by the European Commission ERA-Net scheme under the Seventh Framework Programme. This network of sixteen partners – public bodies, ministries and research funding organisations – from twelve countries announced the results of its third Joint Transnational Call in late 2011. Funding bodies from nine countries joined this call. Thirteen consortia were selected for funding. The rare disease areas of the chosen projects include haematology, metabolic diseases, neurology, dermatology, and congenital malformations. Therapeutic approaches include pluripotent stem cells, gene therapy vectors and customised animal models. There were also many calls for proposals in 2011 in specific rare disease areas and at the national level, such as the notable triumph for France with the funding of the Paris-based Imagine Institute of Genetic Diseases via the French government’s University Hospital Institute (UHI) scheme. The Imagine project focuses on understanding the mechanisms involved in genetic diseases and seeks to accelerate the development of new diagnostic and therapeutic solutions.

A critical issue that arose in 2011 and needs further consideration is how to meet the need for sustainable funding for European rare disease networks, which are typically funded for a three- to five-year period. Several ideas are under discussion on how to accomplish this.

The rare disease community can indeed be hopeful and triumphant looking back on all that has been achieved this year. Wishing all its readers a peaceful end of year, OrphaNews Europe looks forward to an equally exciting 2012.