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 [ClinicalTrials.gov 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.

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.

RareDiseaseDay logo B

28 February 2018 marks the 11th edition of Rare Disease Day, coordinated by EURORDIS, aiming to raise awareness about rare diseases and their impact on patients' lives. This year’s theme is research, recognizing patient and public involvement in rare disease research progress. Cures and treatments exist for a few conditions but are distant hope for most. This year’s Rare Anaemia Day is celebrated to promote an increased and more effective patient involvement in rare disease research. On and around this day, rare disease patient communities from countries and regions all over the world will hold awareness-raising activities based on the slogan Show your rare, Show you care, encouraging everyone’s participation by posting an image or selfie on any social media channel of their faces painted in the Rare Disease Day logo colours and including the hashtags #ShowYourRare, #MyRare or #RareDiseaseDay. 

 

More information: Rare Disease Day 2018; The 2018 Rare Disease Day Video

 

GBT

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) [ClinicalTrials.gov 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 [ClinicalTrials.gov Identifier: NCT03036813].

 

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

 

radeep

The Rare Anaemia Disorders European Epidemiological Platform (RADeep) is an integrated platform connecting databases and patient registries for rare hematological conditions across Europe. It was conceived and put under development by EuroBloodNet, the European Reference Network (ERN) on Rare Hematological Diseases, to foster European cooperation for epidemiological surveillance, improve access to specialized and adequate health care, and facilitate research and development of new treatments, thus increasing the knowledge and promoting best practices for these rare diseases at the EU level.

RADeep is being implemented in different phases through disease-specific arms. For each disease-specific arm, a scientific committee will be established including experts on the prevention, diagnosis and clinical care of the disease, researchers, and national coordinators for data gathering.

The disease-specific arms of RADeep include:

  1. PKDeep (1st phase of implementation on pyruvate kinase deficiency),
  2. Sickle cell disease,
  3. Thalassaemia,
  4. Congenitaldyserythropoieticanaemias (CDA),
  5. Hereditary erythropoietic failure or aplasia: Diamond Blackfan anaemia (DBA) and Fanconi Anaemia (FA),
  6. Membrane disorders and other enzymopathies,
  7. Hereditary sideroblastic anaemias, and
  8. Hereditary non-sideroblastic anaemias due to iron defects.

 

More information: RADeep Official Site

 

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