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.

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.

We are proud to announce the successful receipt of funding from the Cyprus Research Promotion Foundation to expand the ITHANET Community Portal. This 3-year grant award runs in collaboration with Thalassaemia International Federation and the HVP Global Globin 2020 Challenge. It will support the expansion of the website's functionality and platform to accommodate the following main objectives:

  • IthaMaps; enhancement of epidemiological data through demographic and region-specific annotations, also including information about the impact of migration on haemoglobinopathy epidemiology globally.
  • IthaGenes; standardized interpretation of haemoglobinopathy-related variations as part of ClinGen-affiliated Haemoglobinopathy Variant Curation Expert Panel (VCEP).
  • IthaPhen; development of the first haemoglobinopathy-specific genotype-phenotype database.

These improvements will create a more informative and user-friendly interface that will benefit patients and caregivers, as well as the scientific community, medical professionals, public policy officials, and members of the media who search information about haemoglobinopathies. The information on the ITHANET Portal is free and available to everyone.

The European Medicines Agency's (EMA) Committee on Human Medicinal Products (CHMP) recommended a conditional marketing approval for Bluebird Bio's Lentiglobin BB305 gene therapy for β‑thalassaemia. If approved, the new medicinal product will be marketed under the brand name Zynteglo, and will be intended for the treatment of adolescent and adult patients with transfusion-dependent β-thalassaemia (TDT) and a non-β0/β0 genotype. The treatment with Zynteglo involves the transplantation of autologous CD34+ stem cells transduced ex vivo with the BB305 lentiviral βA-T87Q-globin vector, enabling patients with TDT to produce haemoglobin at sufficient levels to allow lifelong independence from blood transfusions [ Identifier: NCT02906202]. Bluebird Bio's Lentiglobin BB305 gene therapy is the first ever to be recommended for approval in Europe for TDT. Final approval depends on the European Commission and is anticipated in the second quarter of 2019. A comprehensive account on the impact of this latest development on patients' lives has been discussed recently by Dr. Carsten W. Lederer, TIF Expert Advisor, here.


Voxelotor (formerly GBT440, Global Blood Therapeutics, Inc.) is being developed as an oral, once-daily therapy for sickle cell disease (SCD). Drawing on the clinical benefits previously seen in adult patients with SCD and in recognition of the critical need for new SCD treatments, voxelotor has received European Medicines Agency (EMA) Priority Medicines (PRIME) designation for the treatment of SCD. Voxelotor is a haemoglobin oxygen-affinity modulator designed to prevent haemoglobin polymerization, the main cause of SCD pathophysiology, with potential to modify the course of SCD early on as to alleviate the symptom burden, prolong life expectancy and improve patient’s quality of life. Promising and reassuring preliminary results from the HOPE-KIDS 1 Study (GBT440-007) [ Identifier: NCT02850406] were presented by Carolyn C. Hoppe, MD, at the 2017 ASH Annual Meeting. The study evaluates the safety, tolerability, pharmacokinetics and exploratory treatment effect of voxelotor in a pediatric population (6 to 17 years) with SCD.

Results are reported for 12 patients (ages 12-17 years) in the 900 mg cohort, who were treated for 16 weeks, as follows:

- Increased haemoglobin levels and improved clinical measures of hemolysis. Six of eleven patients achieved a hemoglobin response of > 1 g/dl increase.

- Reduced daily symptoms at 16 weeks as assessed by total symptom scores (TSS), which improved in 10 of 12 patients, despite low symptom burden scores at baseline.

- Favourable tolerability profile. No drug-related serious adverse events or drug-related discontinuations due to adverse events.

Global Blood Therapeutics, Inc. has initiated a phase III clinical study of GBT440 in patients (12 to 65 years) with SCD [ Identifier: NCT03036813].


More information:ASH 2017 abstract,GBT AnnouncementPharmacy and Therapeutics Journal