2017 retrospective: highlights of the year
The past year has been very productive for rare diseases. Fruitful legislative changes took place, several orphan drugs received marketing authorisation, national plans were pursued and research towards a better understanding of rare diseases intensified.
Orphan drugs
According to the European Medicines Agency (EMA) website, 14 orphan medicinal products received a positive recommendation for marketing authorization in 2017. The access data website of the Food and Drug Administration (FDA) of the United States indicated that they approved a record 75 drugs with an orphan designation in 2017.
Europe
Orphanet celebrated 20 years in 2017, with a revamped website, a new look for OrphaNews and a youtube channel to disseminate tutorials. Orphanet also fostered several successful collaborations during this year including with NIH-NCATS GARD, to improve the provision of quality information on rare diseases.
While many Member States continued with the implementation of their National Plans and reporting on their success, the Luxembourg Health Ministry released details of its National plan.
A new era for cooperation in the field of health was unveiled on 9 March 2017 as the first 24 European Reference Networks (ERN) were launched. These networks involve more than 900 highly-specialised healthcare units from over 300 hospitals in 26 Member States (for further information read the Editorial from – 6 February). Orphanews will continue to regularly update you on ERN activities in the dedicated section in OrphaNews.
RD-ACTION, the European Joint Action on Rare Diseases progress rapidly in achieving its objectives in 2017. An illuminating workshop, organised by RD-ACTION, and hosted by DG Sante in April 2017, gave participants a deeper understanding of the potential of four key resources to increase the utility and re-usability of data collected in the ERNs. RD-ACTION also conducted a survey to analyse the level of implementation of rare disease patient coding across the European Member States was conducted. The results indicated that the ORPHA nomenclature is emerging as the main coding system dedicated to rare diseases.
Rare diseases took centre-stage at the European level as the first winner of the Ombudsman award announced in April 2017 was the European Commission’s DG SANTE, in recognition of their efforts to promote EU collaboration in sharing information and expertise in the field of Rare Diseases. The European Commission also announced that the improvement of diagnosis and patient management in the field of rare diseases will be an integral part of the European Joint Programme (EJP) 2018-2020 designed to coordinated research and innovative programmes.
Spearheaded by EURORDIS Rare Diseases Europe the new Parliamentary Advocates for Rare Diseases network was launched late last year.
ECRIN and the European Paediatric Clinical Trial Research Infrastructure (EPCT-RI) came together to launch the Paediatric Clinical Research Infrastructure Network (PedCRIN) (INFRADEV-3 call). PedCRIN aims “to develop capacity for the management of multinational paediatric clinical trials”, an important initiative, especially for rare diseases.
Finally, as United Kingdom gears to leave the European Union, the EMA will move to Amsterdam, Netherlands.
International News
The International Rare Diseases Research Consortium (IRDiRC) announced the new vision and goals for 2017-2027. IRDiRC was conceived with two main goals: to contribute to the development of 200 new therapies and the means to diagnose most rare diseases by the year 2020. The goal to deliver 200 new therapies was achieved in early 2017, while the goal for diagnostics is considered to be reachable as well. IRDiRC goals are to 'enable all people living with a rare disease to receive an accurate diagnosis, care, and available therapy within one year of coming to medical attention'.
Last year, Rare Disease day celebrated 10 years - the slogan was 'With research, possibilities are limitless'. The first Rare Diseases International policy event also took place on rare disease day wherein people living with a rare disease and policymakers had a unique face-to-face discussion. This event was a collaboration between Rare Diseases International, the Global Alliance of Rare Disease Patients, the BLACKSWAN Foundation, the Swiss Foundation for Research on Orphan Diseases, and EURORDIS-Rare Diseases Europe.
The Orphanet Consortium officially extended its reach to Asia and welcomes its 41st member country, Japan. Additionally, the Initiative on Rare and Undiagnosed Diseases (IRUD) launched by the Japan Agency for Medical Research and Development (AMED) in 2015, moved into its second phase in 2017, entitled IRUD beyond. China released its new policy for orphan drug development.
The United States passed the 21st Century Cures Act, which President Obama signed on 13 December 2016, which took effect in 2017. This Act is meant to streamline the drug and device approval process and bring treatments to market faster and advancing the Precision Medicine Initiative.
Last year Australia changed the eligibility criteria for Orphan drug designation, after a long public consultation, which aligns more closely with international criteria. They also added a 13th orphan drug to their Life Saving Drugs Programme.
The achievements of the past year are envisaged to be instrumental in guiding policy and research in the field of rare diseases in the forthcoming years. We look forward to a fruitful and beneficial year ahead for rare disease patients and stakeholders.