World Sickle Cell Day, June 19th, is a United Nation's recognised day to raise awareness about sickle cell disease (SCD), to support those living with SCD, and to celebrate those patients who have survived and even thrived. SCD is a life-long and debilitating blood disorder, recognized as a public health problem and one of the world's most common genetic diseases. For more information on awareness campaigns and fundraising events, see here.

The European Rare Blood Disorders Platform (ENROL) conceived in the core of ERN-EuroBloodNet to serve as an umbrella for both new and already existing registries on rare haematological disorders (RHD), has officially started June 1st, 2020. The primary objective of ERNOL will be to map at the EU level demographics, survival rates, diagnosis methods, genetic information, main clinical manifestations and treatments as to obtain epidemiological figures and identify trial cohorts for basic and clinical research. To achieve this, ENROL will promote the development of new RHD registries in countries lacking one or connect and facilitate upgrading of existing RHD registries. Furthermore, targeted actions will be carried out in collaboration with EURORDIS for educating patients and families about the benefits of enrolment in such registries. ENROL is co-funded by the European Commission - Consumers, Health, Agriculture and Food Executive Agency (CHAFEA) under the call for proposals HP-PJ-2019 on Rare disease registries for the European Reference Networks. The aims and main objectives, as well as key points of ENROL, will be presented in the online kick-off meeting in July 2nd, 2020, where ERN-EuroBloodNet members, affiliated partners, and other stakeholders’ contribution will be crucial for ENROL implementation and success.

More information here and registration for the kick-off meeting here.

The ITHANET portal has completed the submission of 288 variation-phenotype relationships to ClinVar. Specifically, the submitted variants hold asserted relationship to either α- or β-thalassaemia and spanned one or more globin genes. Importantly, 151 of the submitted variants were novel, whilst a total of 57 alleles already existing in ClinVar were annotated with a new phenotype. All ClinVar links produced by the submission have been integrated into the IthaGenes database. For more information and the records submitted to ClinVar, see here.

A phase 3 trial study published in the June 1 issue of The Lancet of Haematology evaluating the efficacy and safety of deferiprone compared with deferasirox in paediatric patients with transfusion-dependent haemoglobinopathies (DEEP-2). Maggio A. and colleagues show the the non-inferiority of deferiprone versus deferasirox. DEEP-2 was a phase 3, multicentre, randomised trial in paediatric patients (aged 1 month to 18 years) with transfusion-dependent haemoglobinopathies. The study was done in 21 research hospitals and universities in Italy, Egypt, Greece, Albania, Cyprus, Tunisia, and the UK. Participants were receiving at least 150 mL/kg per year of red blood cells for the past 2 years at the time of enrolment and were receiving deferoxamine or deferasirox. Between March 17, 2014, and June 2016, 393 of the 435 patients were randomly assigned to a treatment group (194 to the deferiprone group; 199 to the deferasirox group). Non-inferiority of deferiprone versus deferasirox was established and compliance was similar between treatment groups: 183 (95%) of 193 patients in the deferiprone group versus 192 (97%) of 197 patients in the deferisirox group.In paediatric patients with transfusion-dependent haemoglobinopathies, deferiprone was effective and safe in inducing control of iron overload during 12 months of treatment. Considering the need for availability of more chelation treatments in paediatric populations, deferiprone offers a valuable treatment option for this age group.

More information: Original publication.

Agios Pharmaceuticals, Inc, announced that the updated results from the Phase 2 thalassemia study will be presented at the European Hematology Association (EHA) Annual Congress being held virtually June 11-14, 2020. Phase 2 trial of Mitapivat (AG-38) involves patients with non-transfusion-dependent thalassemia. Mitapivat is an investigational, first-in-class, oral, small molecule allosteric activator of wild-type and a variety of mutated pyruvate kinase-R (PKR) enzymes. The Phase 2 study has enrolled 12 (nine with β-thalassaemia and three with α-thalassaemia) of the intended 17 patients. The primary endpoint has been set as a haemoglobin increase of ≥1.0 g/dL from baseline in at least one assessment during weeks 4-12. The β-thalassaemia patients were treated with 50 mg of Mitapivat twice daily for the first six weeks and escalated to 100 mg twice daily, and all patients remain on treatment for 12.4 to 34.3 weeks. Seven of eight efficacy evaluable patients achieved a hemoglobin increase of 1.0 g/dL, and for responders the mean hemoglobin increase from baseline was 1.76 g/dL (range, 0.9–3.3 g/dL) during weeks 4-12. More information can be found here.