The European Commission granted conditional marketing authorization to Bluebird Bio's Lentiglobin BB305 gene therapy (ZYNTEGLOTM) for transfusion-dependent β-thalassaemia (TDT). ZYNTEGLOTM is a one-time gene therapy (autologous CD34+ cells encoding βA-T87Q-globin gene) for a specific genotype of TDT, cleared for use in patients aged 12 and older who are able to receive a stem cell transplant but have no matched donor. These are exciting news as ZYNTEGLOTM is the first gene therapy to gain regulatory approval for TDT in the European Union, offering for the first time the possibility of a transfusion-free future and a better quality of life to severely-affected patients. The company will offer the therapy first in Germany, followed by Italy, the U.K. and France, and hopes to launch ZYNTEGLOTM in the U.S. next year.

More information: Bluebird Bio press releaseEMA Medicine Report

The European reference network for rare hematological disorders (ERN-EuroBloodNet) recently published its second report on all the activities performed and results achieved in its second year of implementation, also putting forward a number of suggestions for the future actions of the network. Deliverables submitted to the European Commission are available here.

The European Platform on Rare Disease Registration (EU RD Platform) is an integrated platform connecting patient registries for rare diseases (RD) across Europe. It was developed by the Commission's Joint Research Centre in collaboration with the Directorate General for Health and Food Safety. The Platform is supported by the European Rare Disease Registry Infrastructure (ERDRI), which provides the infrastructure and tools to make RD registries' data searchable, findable and re-usable. The Platform also sets EU-level standards for RD data collection and facilitates data sharing between registries across institutions and/or countries for the purpose of supporting the work of the European Reference Networks and for conducting meaningful studies.

A marketing authorization application (MAA) has been submitted to the European Medicines Agency (EMA) for luspatercept for the treatment of anaemia related to myelodysplastic syndromes and β-thalassaemia. Luspatercept (Celgene and  Acceleron Pharma Inc.) is a first-in-class erythroid maturation agent that is designed to regulate late-stage red blood cell maturation. The MAA for the agent is for adult patients with β-thalassemia-associated anaemia who require blood transfusions. In the phase 3 BELIEVE clinical trial, adult β-thalassaemia patients randomized to the luspatercept arm had a statistically and clinically meaningful reduction in transfusion burden during any 12 or 24 weeks in the study period with minor side effects, according to data presented at ASH 2018. A Phase 2 trial in non-transfusion-dependent β-thalassemia (BEYOND) is ongoing. See Celgene's Press Release here.

The project "THALassaemia In Action" (THALIA) is an iniative of the Thalassaemia International Federation, co-funded by the European Commission, with the goal of offering continuous and comprehensive education to patients, caregivers, healthcare professionals and policy makers in every aspect of thalassaemia. Due to increased migration and mobility flows in Europe, national planning for the prevention and treatment of this specific group of rare diseases is urgently needed. The THALIA project targets areas and countries across Europe where progress is needed, particularly countries of major transit migration (e.g., Serbia and Austria) and countries that receive most refugees and migrants from countries with high prevalence in thalassaemia (e.g., France, Germany, and Sweden). The THALIA project aims to:

• Provide education about thalassaemia through the development of e-learning tools, capacity building courses and training seminars.

• Raise awareness on thalassaemia and preventive care through an array of online tools, activities and publications.

• Prioritise haemoglobin disorders and their control at EU level through the establishment of patient associations and the development of an EU Electronic Health Record.

• Support research programmes and studies focused on the clinical management of thalassaemia through participation in scientific conferences, publications and fellowships.