Parliament and the European Social & Economic Committee issue opinions on the Council rare disease proposal
Both the European Parliament and the European Social and Economic Committee have issued opinions on the Proposal for a Council Recommendation on a European action in the field of rare diseases overwhelmingly supporting the contents of the crucial document that outlines a strategy for organising rare disease research and treatment on both the national and European levels.
The European Social and Economic Committee (ESEC) was the first to weigh in favourably. Formed under the 1957 Rome Treaties to “provide institutional machinery for briefing the European Commission and the Council of Ministers on European Union issues,” the ESEC is a consultative body that issues opinions “forwarded to the larger institutions - the Council, the Commission and the European Parliament”. At the request of the European Council, the ESEC agreed to consult the Proposal for a Council Recommendation on Rare Diseases that delineates a strategy supporting European Member States in diagnosing, treating and caring for citizens with rare diseases. At its 451st plenary session held on 25-26 February 2009, the ESEC adopted an opinion on the Recommendation by 162 votes to 4 (8 abstentions). The opinion, publicly available for consultation, is generously peppered with words such as “supports” "endorses” “agrees with” “welcomes” and “recommends”, reflecting the general support for the overall contents of the Recommendation. However, the ESEC opinion queries the dates furnished in the Recommendation, particularly 2011 for the preparation of national plans, suggesting that more time will likely be needed for detailed plans to be formulated.
The European Parliament also welcomed the Council Recommendation, deeming it “absolutely necessary”. At the same time the Parliament opinion categorises the proposal “insufficient” in its current state because “it does not describe … the necessary funding from EU and the co-funding by EU and Member States or other organisations”. The opinion, issued by the European Parliament’s Environment, Public Health and Food Safety Committee, puts forward some 34 amendments designed to clarify and further specify the contents. Amendment 8 integrates the guidelines adopted in the Pharmaceutical Forum final report geared to enable Member States and the Commission to improve and accelerate access to orphan medicinal products. The Parliament opinion, in contrast to the ESEC opinion, amends the text to compel Member States to "elaborate and adopt a comprehensive and integrated strategy by the end of 2010 (Amendment 11). Parliament recommends that the implementation proposal is provided by the end of 2012 at the latest and that “specific mention should be made for funding…” (Amendment 12) for activities including the “collection of epidemiological data, the creation of expert centres in Member States which lack such centres, the creation of special training courses in the existing centres, the mobilisation of experts and professionals in order to create the necessary conditions for advancing existing knowledge, and research on diagnostic tools and tests on rare diseases and especially on genetic ones”. Amendment 18 addresses resources for treatment. This should be sourced at the national level (rather than being the responsibility of hospitals and other health centres). Securing long-term, sustainable funding is another provision evoked by the Parliament. Other Parliament amendments extend areas of the proposal to include partnering with non-European developing and developed countries.
The Parliament opinion considers the Council Recommendation a “roadmap” that can create helpful conditions in the field of rare diseases, but that to be efficiently and successfully applied, the Proposal needs to be "more precise and definite in the calendar (years) of implementation”. The Parliament’s Committee on Industry, Research and Energy also consulted the Proposal and put forth 13 additional amendments that echo the he Environment, Public Health and Food Safety Committee’s amendments on funding, third country partnership and streamlining Member State access to medicinal products.
The meeting of the Council of Ministers for adoption of the Proposal for a Council Recommendation for a European Action in the Field of Rare Diseases is scheduled for 9 June 2009.
Consult the Opinion of the European Economic and Social Committee
Consult the Opinion of the European Parliament
In the Netherlands, the Dutch Orphan Disease Registry Consortium has been developed in order to create a system to capture information on rare diseases that will contribute to optimising patient care and furthering drug development. Inborn errors of metabolism are the first group of diseases to be targeted by the registry consortium. In 2007, the Netherlands extended its newborn screening programme to include 14 of these diseases including galactosaemia and maple syrup urine disease. The Dutch Orphan Disease Registry Consortium will optimise the expertise of various partners, in order to develop guidelines for improving treatment and management. Project research coordinator Sonja van Weely of the Dutch Steering Committee Orphan Drugs commented in a news article that "…in depth knowledge of rare diseases is essential for the development of novel therapeutic drugs. This project creates a web-based registry framework in which essential information, such as the incidence of the disease and outcomes of treatment, is brought together. This registry will improve our knowledge of these diseases, enabling us to reduce the ’time and cost-to-patient’ by facilitating the development of new orphan drugs and as such contributes to the wellbeing of society and patients with rare diseases in particular." The project has a €1.5 million budget for a three-year period. Various partners are co-financing the project. Data gleaned from the initial phase of the registry will contribute to the development of a sustainable plan “of national and international implementation to other rare diseases.” The Consortium is exploiting the resources of 
Following the European Commission’s Communication last November defining a strategy for EU countries to create and adopt their own plan for rare diseases, a Parliamentary dinner-debate was held in the United Kingdom in mid-February, gathering a range of experts in order to discuss a national rare disease plan for the UK. Co-hosted by Dr. Ian Gibson, a Member of Parliament from the House of Commons, and Genzyme Therapeutics UK & Ireland, the event was attended by patient representatives, clinical experts, members of industry, and Parliamentarians. Key themes included variations in access to quality service; ensuring “a complete package” of care – from diagnosis to treatment; increasing communication between experts and between countries; and the need for a mechanism that ensures sustainability. In the UK, as elsewhere, scarce expertise leads to a “patchy” provision of services. The lack of a national structure engenders late, missed, or incorrect diagnoses – often with severe health consequences. Many rare diseases fall outside the National Commissioning Group’s prevalence threshold, and thus are lost between the two main health bodies (the NCG and NICE). This means that patients must lobby for their treatment. Although some groups have been successful in obtaining the medicinal products they seek, it was agreed that rare disease patients should not have to resort to this practice. National centres of excellence were brought forward as a strategic means to reduce variations in care by grouping together expertise for particular disorders. However, the point was made that such centres would not diminish the need for improved knowledge and communication at the local level. The UK plan would ideally ensure a “complete treatment pathway” in addition to ascertaining that drugs are approved and available. Home nursing and resources for travel were cited as examples of care that many patients need in addition to medicines. Sharing knowledge and improving communication on all levels would need to be addressed in the plan. Finally, ensuring sustainability arose as a factor to be built into a national plan. With funding often dispensed on a short-term basis, the means are needed to make rare disease support “a permanent feature” of the UK healthcare system. The evening was viewed as a promising starting point, and a scheduled steering group meeting of the 
In late March, representatives from some 38 German- and French-speaking patient organisations gathered together at the University Hospital of Geneva to forge a plan for establishing a national patient alliance for rare diseases. Organised by Orphanet Switzerland in tandem with the association Enfance et Maladies Orphelines, participants considered the structure and experiences of the national rare disease alliances of Germany and France. While Switzerland recognises human genetics as a specialised branch of medicine, and care for rare disorders is available in five university hospitals, the country has no designated specialised centres for rare diseases and its insurance policy does not cover many costs linked to rare disease care, such as travel, technical equipment, and care obtained outside of the country. There is no help line available for rare disorders and the only funds specifically earmarked for rare disease and orphan drug research are the monies collected via the Swiss Telethon. With a system of governance diffused over 26 independent cantons, each responsible for its own health, welfare, law, and education, and four official languages, organising a centralised project such as a patient alliance in Switzerland is not without its challenges. Despite this, participants recognised the need for a united front in order to obtain resources for rare diseases, and voted virtually unanimously in favour of creating a national alliance. The first topics the alliance is reported to address encompass national level health issues such as health insurance, genetic testing, and orphan medicinal products. A working group has already been formed to work on a charter, by-laws, and a strategy for the alliance.
“In a country like Croatia (population of 4.5 million), most physicians do not see a single patient with a rare disease during their entire career.” Thus begins a freely-accessible article recently published in the Croatian Medical Journal. Rare Diseases in Croatia – Lesson[s] Learned from Anderson-Fabry Disease offers a glimpse of the rare disease scenario in the country: In Croatia, rare diseases are frequently undiagnosed and when diagnosed they are not given special treatment and attention. The awareness of rare diseases remains low among Croatian physicians and health care system organisations. The need for creating an infrastructure that would enable early access to existing treatment by establishing a special fund for expensive therapies has only recently been recognised. A special budget was established on the principle that the society cannot accept discrimination and to counter the fact that certain individuals are denied the benefits of medical progress because the illness they have is rare or costly. The main goal of this fund is to ensure equal access to treatment for all such patients. 
