2014, a dynamic year for rare disease stakeholders
With the new year comes new beginnings, resolutions and wishes for the future, but this time also offers the opportunity to review the previous year's achievements. 2014 was a busy and fruitful year for the rare disease community, with the help of a number of young people in the world, and the 2014 European Conference on Rare Diseases in Berlin. Orphan Products and the International Rare Disease Research Consortium's second conference in Shenzhen.
2014 saw the first meeting of the European Expert Group on Rare Diseases , which replaced the European Union Committee of Experts on Rare Diseases . This multi-stakeholder group, has a mandate to assist the Commission with the development and implementation of rare disease policies. The Commission describes its future priorities for the field of rare diseases in its implementation report , published in Autumn 2014, which took stock of the following achievements of the Communication Commission : Rare Diseases Europe's Challenge (2008) and the Council Recommendation on the field of rare diseases (2009).In particular, the report highlighted the adoption of 16 national plans / strategies in the United States by the December 2013 deadline: 4 additional plans were adopted in 2014 making the total 20 to date. The report concludes with a list of actions envisaged in the future by the European Commission, which includes the intention to maintain the EU's coordinative role in the development of European policy on rare diseases and national support, including plans and strategies for rare diseases . In addition, the Commission wishes to continue supporting the IRDiRC and initiatives under the umbrella and to play a role in collaboration with important international stakeholders in the field of rare diseases. Support to ensure proper classification of rare diseases has also been cited as a priority for increasing awareness of rare diseases and patient empowerment. Finally, the Commission highlighted that much work would beDirective on cross-border healthcare for the development of tools for facilitating the co-operation and interoperability of European Reference Networks for rare diseases.
The Expert Group on Rare Diseases will provide support to the European Commission in the implementation of these goals. The Expert Group puts in place three times in 2014 and adopts the first recommendation to improve the treatment of rare diseases, which is an important step forward in ensuring that rare diseases are made visible in health information systems through the use of Orphacodes where no appropriate code exists in current coding systems. Next steps to ensuring a coherent and integrated strategy in the field of rare diseases will be pursued by the future Joint Action for Rare Diseases to start in 2015 which will support rare disease activities at European level, including Orphanet and the activities of the Expert Group.
The Expert Group was supported in its endeavors in 2014 by the EUCERD Joint Action through a range of expert workshops were organized on the subject of quality of care for rare diseases and centers of expertise, European Reference Networks, national plans / strategies for rare diseases , trans-border genetic testing, evaluation of rare disease and Orphacodes. National Five conferences Were Co-Organized by Eurordis and National Alliances of Rare disease patient Throughout Europe in organizations the scope of the Joint Action with the aim of Promoting the elaboration and implementation of National Plans / Strategies for uncommon diseases ( consult the available conference overs ) .
At the European level, 2014 also saw the launch of the a much anticipated ontology of rare disases which represents an all-inclusive and singular resource point for the ontological analysis of rare diseases. The Orphanet Rare Disease Ontology (ORDO), jointly developed by Orphanet and the European Bioinformatics Institute (EBI), provides a structured vocabulary for rare diseases, capturing relationships between diseases, genes and other pertinent features, in a language directly understandable by computers. ORDO is available to all on the sites of BioPortal, EBI as well as Orphadata.
2014 was a year rich in rare disease events, kicked off by the highly successful international Rare Disease Day on 28th February 2014. Last year marked a record high of 84 participating countries and 410 events around the world: 9 countries participated for the first time (Cuba, Ecuador, Egypt, Guinea, Jordan, Kazakhstan, Kenya, Oman, and Paraguay). EURORDIS, organiser of the day, held a policy event in Brussels to mark the day. The 7th European Conference on Rare Diseases and Orphan Products was held in Berlin from 8-10 May bringing together 750 participants from over 40 countries, providing an excellent networking opportunity and the time to share experiences and explore new horizons. Taking stock of achievements and future endeavours to improve the quality of life of people with rare diseases, the conference report, presentations, and abstracts from the conference cover a range of interesting themes, ranging from healthcare services to research, from orphan products to approaches beyond medical care.
Another major event was the much awaited 2nd International Rare Diseases Research Consortium (IRDiRC) conference which took place in Shenzhen, China on 7-9 November 2014. Organised by IRDiRC in partnership with BGI, the conference brought together over 600 rare disease stakeholders from all over the world to discuss and share experiences and expertise. The main theme of the conference was collaboration, placing emphasis on contributing towards expertise, information and technology via global networks to improve diagnosis of rare diseases, patient access to best treatment and care, and patient and family support. IRDIRC promises to contribute to the development of 200 therapies for rare disease and means to diagnose all of them by 2020, which can only be possible through the collaborative efforts of academics, researchers, clinicians, industry leaders, policy makers and patient advocates, internationally.
In terms of support to the IRDiRC’s aims, the European Commission started to launch previously announced calls for proposals, including the continuation of the activities of the E-Rare ERA-Net on rare diseases which funds joint transnational calls between European funding bodies: this coordination activity was assured for the period of 2014-2019.
In the field of orphan medicinal products, 2014 saw a record number of orphan designations and market authorisations in Europe and the USA. At European level, the European Medicines Agency’s Committee on Orphan Medicinal Products (COMP) granted 196 positive opinions for orphan drug designation out of 259 examined submissions, and the European Commission granted 160 designations. Twelve products were granted marketing authorisation at European level in 2014 (consult the COMP’s meeting report of December 2014).
In the US, the Food and Drug Administration (FDA) reached a milestone with a record 49 approvals for rare diseases, with 467 designation requests (a nearly 35% increase over 2013), and 293 orphan drug designations grants, which constitutes approximately 13% increase over 2013). Although this provides an excellent incentive to developers of orphan drugs, they often carried with them a price tag that remains unaffordable by many rare disease patients.
What are the hopes of the ever advancing rare disease community at the beginning of this new year? As at the end of each year, there is cause for both pessimism and optimism. The rare disease field remains politically dynamic, but the biggest challenge for the future will be the successful implementation of national plans and strategies for rare diseases in the current economic context. Limited resources, both at European and national level, will be established and creative solutions will be proposed. Scientific discoveries continues to accelerate in the field of rare diseases, bringing with them a wealth of new knowledge to be applied in the treatment of rare diseases.