Biol. of Blood and Marrow Transpl






Allogeneic haematopoietic stem cell transplantation (HSCT) is the only established curative therapy for β-thalassaemia. Patients who opt for this treatment are faced with potential late effects that may lead to chronic health conditions. Long-term follow-up after HSCT has the potential to identify late complications of HSCT, allowing for implementation of standardized surveillance strategies and interventions to optimize outcomes and further increase survival rates. While long-term outcomes of HSCT for β-thalassaemia have been reported in literature, these are scarce and limited to single center experiences. An article published in the June 13 issue of the Biology of Blood and Marrow Transplantationreports late effects and long-term health among 176 pediatric patients affected by β-thalassaemia who survived 1 year and beyond after HSCT with a median follow-up of 7 years. This is an original report on long-term follow-up after HSCT for β-thalassaemia using data from multiple international transplant centres. Outcomes of interest included engraftment, chimerism, graft rejection, graft-vs-host disease, ferritin, growth velocity and measures of organ function. Although the study reported high survival among transplant recipients, late organ toxicity and growth impairment was frequently described in those greater than 7 years of age. The incidence of late effects highlighted the need of uniform, careful and systematic follow-up care as to correctly identify and promptly treat any complications that may arise after HSCT. The study also highlighted the need to systematically document the long-term outcomes of HSCT in data registries in order to optimize the tracking and management of post-HSCT health among transplant survivors.

More information:  Publication

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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


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

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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


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

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