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