Extension of the 2nd National Plan for Rare Diseases in France
The announcement of the extension of the 2nd National Plan for Rare Diseases (PNMR2) 2011-2014 was made at the last meeting of the Plan Monitoring and Foresight Committee on December 17, 2014. This plan will be extended until the end of 2016. The goal of this extension is to complete and implement actions that are late or need to be consolidated. This extension also involves an evaluation of PNMR2 prior to any decision for the introduction of a third plan.
Work programme
The 2015 work programme includes plans to develop or consolidate actions that have already commenced. This year will be devoted to the development of the sectors and the definition of monitoring indicators and its evaluation. Reorganisation of the Rare Disease Reference Centre and a new labelling process will be implemented. The business and operations of the Rare Disease Reference Centre will continue to be measured through annual activity reports, such as the one presented in 2014. These evaluations will provide objective data to facilitate the award of grants tailored to the actual activity of the Rare Disease Reference Centre. The first phase of activities of the National Bank of Rare Diseases Data, formerly BaMaRa, will be released as soon as the authorisation by the National Commission for Information and Liberties is obtained. The expert group on the implementation of the codification of rare diseases with Orphacodes will continue, with results expected in late 2015. The Orphanet database will continue to be supported by the Directorate General of Health to produce information on rare diseases, as well as creating and updating Orphacodes.
A working group to define a national doctrine on deploying high-throughput sequencing techniques within healthcare institutions will be set up at the beginning of the year.
Evaluation of PNMR2
The PNMR2 will be subject to an assessment conducted jointly by the High Council for Public Health and the High Council of Research Evaluation and Higher Education. This assessment is designed to measure the effectiveness and impact of the measures of the Plan and its two main components, health and research. A first meeting between the two institutions to identify indicators to measure and evaluate PNMR2 will take place in December 2015, where the project managers involved in the Plan will present the results.
For further information in french
The legislature in Taiwan has recently made amendments to the Rare Diseases Prevention and Medication Act and the Nursing Personnel Act which aim to provide additional assistance for rare disease patients. The changes to the act were made to guarantee the government’s financial backing of supportive and palliative care for people with rare diseases that are not covered by the National Health Insurance (NHI) in Taiwan. These amendments will ensure services, such as psychological support and birth care, are continually provided for patients and their families. The amendments were also geared towards accelerating the review process for medications needed by patients to be covered by the NHI, as well as to establish an emergency drug supply mechanism to combat drug shortages. 
The Deciphering Developmental Disorders (DDD) project is the first nationwide study established in the UK to find if the usage of cutting edge genetic technology can lead to an increase in the rates of genetic diagnosis and at the same time help doctors understand why certain patients are susceptible to developmental disorders. Additionally, the project addresses whether and how genomic findings should be shared with individual research participants - a topic that is of intense international debate due to the underlying ethical implications. Jointly funded by the Health Innovation Challenge Fund and the Wellcome Trust Sanger Institute, and supported by the NHS National Institute for Health Research, this study brought together doctors throughout UK to collect high-resolution genomic and phenotypic data for children with severe undiagnosed developmental disorders and their parents. The success of this transformative venture has been shown in recent publications of 2 high quality articles in Nature and The Lancet. 
The Institute of Medicine (IOM) of the National Academy of Sciences has recently published a report recommending government agencies and companies to share data from research studies that they fund. The report sets out several steps that clinical trial sponsors are encouraged to take in order to widen access. These include developing specific plans for sharing data, such as granting access through third-party web sites; and adopting recommended timetables for releasing both summary and complete data packages after studies have been finished and published. The report suggests that summary level results should be publicly available no later than 1 year after a trial has been completed. Also, a complete data package, which includes the full protocol and statistical analysis plan, among other things, should be shared no later than 18 months after a study is completed.
Illustrated in an article published in the Patient are two factors that make the measurement of societal value of orphan drugs particularly difficult in Canada. These challenges were demonstrated by surveying 2,005 Canadian adults where respondents chose between funding the treatment of patients suffering from either rare or common diseases. The authors report that "the respondents were more likely to display choice aversion and unstable preferences if they had not completed a university degree and when a ’zero-sum’ frame was used to introduce the choice sets". The authors believe that studies in which the stated opportunity costs of funding orphan drugs focus exclusively on reductions in funding for other drugs or treatments may only provide a limited understanding of citizens’ policy preferences in the area of rare diseases. 
