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The U.S. Food and Drug Administration (FDA) approved Endari [PDUFA date: July 7, 2017] for the treatment of sickle cell disease (SCD). This marks a significant milestone in the field as Endari is the first and only FDA-approved treatment for pediatric patients and the first treatment in almost 20 years for adult patients. FDA approval was based on safety and efficacy data from a randomized, double-bind, placebo-controlled multi-centre clinical trial [NCT01179217] involving 230 adult and pediatric patients (5 to 58 years of age). Endari treatment improved the course of SCD, resulting in fewer sickle cell crises and hospitalizations, as well as a lower incidence of the life-threatening acute-chest syndrome. No major adverse events related to treatment were reported.

Endari is an orally-administered pharmaceutical grade L-glutamine made by Emmaus Life Sciences Inc. (Torrance, Calif.). It has received Orphan Drug designation in the U.S., Orphan Medicinal Product designation in the EU and Fast Track designation from the FDA.

 

More information: Press announcement

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The International Rare Disease Research Consortium (IRDiRC) was launched in April 2011 at the initiative of the European Commission and the U.S. National Institutes of Health to foster international collaboration and maximize research output in the rare diseases (RD) field. The IRDiRC 2010-2020 goals are to develop 200 new therapies and the means to diagnose most RD by the year 2020. With IRDiRC's first goal completed ahead of time and the second being in close reach, the 3rd IRDiRC conference held in Paris in February 2017 celebrated these achievements and dedicated time to reflect on new goals towards better diagnosis and therapy for RD patients.

The overarching goals of IRDiRC for the upcoming decade have now been announced. These include:

  • 1) All patients coming to medical attention with a suspected (and known) RD will be diagnosed within one year. Undiagnosed patients will enter a globally coordinated diagnostic and research pipeline.
  • 2) 1000 new therapies will be approved, the majority of which will focus on RD without approved options.
  • 3) Methodologies will be developed to assess the impact of diagnoses and therapies on RD patients.
  • More information: IRDiRC News, IRDiRC Press Release3rd IRDiRC Conference-ParisRD-Connect News

ERN

The 3rd European Reference Network (ERN) Conference took place in Vilnius, Lithuania, on the 9th of March 2017, formally recognizing 24 ERNs and marking a new era for cooperation in the field of health. The report has now been published. The conference was an initiative of the European Commission and was hosted by the Ministry of Health of Lithuania under the auspices of the Maltese Presidency of the Council of the EU. It was attended by around 600 healthcare providers, patient representatives, policy makers and health experts. In addition to opening addresses, the conference consisted of four multistakeholder roundtables on the following topics: organisation and management of ERNs, EU policies and supporting Actions to ERNs, ERNs and national healthcare systems, and the way forward for the new ERNs. Considerable emphasis was placed on the importance of the ERNs’ work being supported by adequate information technology and eHealth tools, which play a valuable role in facilitating collaboration.

More information: Press release, OrphaNews, Conference report

ema

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

ema

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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  • Global Biobank Week - Towards Harmony in Biobanking
  • The 3rd World Congress on Controversies in Preconception, Preimplantation and Prenatal Genetic Diagnosis
  • 10th CNAPS International Symposium - Recent Advances in Circulating DNA & RNA
  • International Conference on Blood Disorders and Haematology
  • 11th Annual Sickle Cell Disease and Thalassaemia Conference (ASCAT) 2017

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