The European Medicines Agency (EMA) has published an action plan for small and medium-sized enterprises (SMEs), which aims to foster innovation and support SMEs throughout all stages of medicine development in both the human and veterinary fields. The Agency’s SME Office has been providing active regulatory, financial and administrative support to registered SMEs since the implementation of the SME Initiative. The action plan builds on existing measures and addresses challenges of SMEs that were identified in the EMA’s report on the “10th Anniversary of the SME Initiative”, also taking into account EMA’s new framework for collaboration with academia and the EU-Innovation Network guidelines. The plan includes a series of new and enhanced actions for implementation in 2017-2020, and covers four main topics:

i) Raising awareness of the EMA SME initiative to stakeholders in the innovation lifecycle.

ii) Developing regulatory knowledge base of SMEs in the pharmaceutical sector.

iii) Fostering pharmaceutical innovation for human and veterinary medicines.

iv) Engaging with SMEs, partners and stakeholders, e.g.: in light of new medical device legislation and advances in pharmacogenomics/therapies.

The plan does not contain any action that would require changes to the Commission Regulation (EC) No 2049/2005. The implementation of the plan will be monitored through dedicated contact points across the operational divisions.

 More information: EMA News, Action plan10th Anniversary of the SME InitiativeEU Innovation Network

rd action

Rare diseases (RD) are recognized as a public health priority, but the scarcity of epidemiological data to estimate the true burden of RD has often resulted in their exception from healthcare planning and resource allocation. The visibility of RD in healthcare systems can be improved by enhancing their representation in classifications that are used to gather health data. To address this issue, the international consortium ORPHANET developed a comprehensive classification and coding system to establish an inventory of RD, where each clinical entity is assigned a unique and stable identifier called the ORPHA code. The inventory of RD has been maintained since 1997 and can be used in health information systems to code patient’s records, thus allowing the identification and better care of those affected. In November 2014, the Commission Expert Group on Rare Diseases (CEGRD) adopted a recommendation to include a codification policy for RD in Member States national plan and to consider adding ORPHA codes to their country’s health information system. The implementation of this work has been supported by an RD-Action work-package (RD-ACTION Joint Action 677024, funded by the EU's Health Program 2014-2020). As a fruit of this effort, the guideline document “Standard procedure and guide for the coding with Orphacodes” has just been produced. The document promotes the implementation of a standardized, consistent monitoring system and routine coding of RD using ORPHA codes across Europe, and contains 6 recommendations adapted to different and well defined coding situations. This document is a major step towards the practical implementation of RD codification, necessary for inter-operability between countries but also between different sources of data, coming both from care and research.

More information: ENERCA news, RD-Action WP5


The 1st European Reference Networks (ERNs) Coordinators Group Meeting took place in Brussels, Belgium, on the 26th-27th of April 2017. The meeting was an initiative of the European Commission in order to set up the overall priority areas of the ERNs for 2017-2018. The meeting also addressed key issues concerning all the ERNs, including the monitoring process for the assessment of the ERNs, the cooperation and interaction of ERNs with the Board of Member States and national health systems, future calls for funding ERNs activities and legal issues, among many others. Moreover, a workshop entitled "Using standards and embedding good practices to promote interoperable data sharing in ERNs" was held during the meeting. With aim to achieve the full interoperability and compatibility of data and platforms, inside and beyond ERNs, the workshop presented various standards and tools as an inspirational guide to IT developers and ERN members. The workshop was co-hosted by RD-Action and the European Commission’s Directorate General for Health and Food Safety (DG SANTE). The 2nd ERNs Coordinators Group is scheduled to take place on June 2017.

More information: ENERCA News


The European Medicines Agency (EMA) has published a final report on the experience gained during its pilot project to involve the patient perspective in the assessment of the benefits and risks of medicines. The EMA's Committee for Medicinal Products for Human Use (CHMP) is responsible for conducting the initial assessment of medicines and their EU-wide marketing authorization. The pilot project forms part of EMA’s strategy to better involve patients in the Agency’s activities, particularly when their input could be valuable to the assessment of medicines, as in cases where the CHMP is considering whether to recommend the maintenance, suspension or revocation of a marketing authorisation, or a restriction of indication of an authorised medicine. During the pilot project (September 2014 to December 2016), patients were involved systematically in oral explanations at the CHMP, providing their views on the therapeutic effect of a medicine (namely, Scenesse, Intuniv, Tecfidera, Kyndrisa, Translarna, and Translarna) and its impact on their quality of life. A summary of responses by patients and CHMP members is presented in the report, which confirms the benefit of including patients in discussions at the CHMP when the patient perspective could compliment the assessment. This pilot project marks the next step in bringing patients’ views and values to the assessment of medicines throughout their lifecycle.

More information: orphaNews, European Medicines Agency

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A case report published in the March 2 issue of the New England Journal of Medicine proves that gene replacement therapy can be a powerful curative tool for sickle cell disease (SCD) and paves the way for the design of similar strategies to treat other monogenic conditions of the haematopoietic system. Ribeil J.A. and colleagues describe the first SCD patient treated with LentiGlobin vector BB305, a lentiviral vector encoding a modified β-globin gene (βA-T87Q) that confers anti-sickling properties. The patient is a 13-year-old boy with severe SCD, who was placed on a regular red-cell transfusion regimen after failure of hydroxyurea treatment to reduce his clinical symptoms. The boy underwent myeloablation with intravenous busulfan, followed by a single infusion of gene-corrected autologous bone marrow CD34+ stem cells. The engraftment of transduced stem cells was successful, red-cell transfusion requirements ceased 3 months after gene therapy, and by 15 months of follow-up the clinical phenotype and the biological hallmarks of SCD were substantially improved. By that time a stable vector copy number was achieved, and therapeutic haemoglobin (HbA-T87Q) levels had reached 5.7 g/dL (48% of the total Hb) with a corresponding drop in sickle haemoglobin levels. Vector integration site analyses showed polyclonal reconstitution without clonal dominance. The boy did not experience adverse events related to gene therapy, and more than 15 months post-treatment has had no hospitalization or acute SCD-related events. The clinical study (HGB-205) was sponsored by bluebird bio, with principal investigator Professor Marina Cavazzana, M.D., Ph.D.

More information: Original publication