IMARA Inc, announced that the U.S. Food and Drug Administration (FDA) has granted Orphan Drug Designation for IMR-687 for the treatment of patients with β-thalassemia. The Orphan Drug Designation for IMR-687 was previously granted for the treatment of patients with sickle cell disease (SCD). IMR-687, is an oral, once-a-day, potentially disease-modifying treatment for SCD and β-thalassemia. It is a highly selective and potent small molecule inhibitor of PDE9 that has a multimodal mechanism of action that acts primarily on red blood cells and has the potential to act on white blood cells adhesion mediators and other cell types that are implicated in SCD. Blocking PDE9, HbF levels in red blood cells increased, improving symptomology and lowering disease burden in patients with SCD and β-thalassemia. Based on preclinical data, IMARA stated that IMR-687 has several features that make it an optimal therapeutic for SCD and β-thalassemia such as a highly potent PDE9 inhibitor, differentiated selectivity and tolerability profile, minimal brain penetration and drug product stability. More information can be found here.

REBLOZYL® (Luspatercept) has been approved by the European Commission for the treatment of transfusion-dependent anaemia in adult patients with beta-thalassaemia and myelodysplastic syndromes (MDS). Originally developed by Acceleron as ACE-536 and licensed by Celgene (now part of US pharma major Bristol-Myers Squibb) in 2011, REBLOZYL® was approved by the FDA for anaemia associated with beta thalassaemia last year. The approval for REBLOZYL® is based on positive data from the BELIEVE (beta-thalassaemia) and phase III MEDALIST (MDS) studies. This is the first and only erythroid maturation agent to be approved in the European Union, which, for the first time, will help decrease the number of blood transfusions and consequent iron-induced dysfunction by decreasing the iron-loading burden. For more information, see here.

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.

Agios Pharmaceuticals, Inc, presented the updated results from the Phase 2 thalassemia in an oral presentation at the European Hematology Association (EHA) Annual Congress. The ongoing, open-label Phase 2 study is evaluating the efficacy, safety, pharmacokinetics and pharmacodynamics of mitapivat treatment in adults with non-transfusion-dependent α- and β-thalassemia who have a baseline hemoglobin (Hb) concentration of ≤10 g/dL. The trial is fully enrolled with 20 patients and includes a 24-week core period followed by a 2-year extension period for eligible participants. All patients were treated with an initial dose of mitapivat 50 mg twice daily followed by a dose-level increase to 100 mg twice daily at the week 6 visit based on safety evaluations and Hb concentrations. Treatment with Mitapivat induced Hb increase of ≥1.0 g/dL from baseline in 12 of 13 (92%) evaluable patients, including 4 of 4 (100%) α-thalassemia patients and 8 of 9 (88.9%) patients with β-thalassemia, during weeks 4-12. Sever of 8 (88%) β-thalassemia patients achieved sustained primary and Hb response in ≥2 assessments during weeks 12-24. Furthermore, preliminary results for markers of hemolysis and erythropoiesis demonstrated improvements that were consistent with the Hb increase. “Our focus now is to advance the development of mitapivat for these patients as quickly and efficiently as possible. By the end of the year, we expect to finalize a robust pivotal development plan that spans both α-and β-thalassemia, as well as transfusion dependent and non-transfusion dependent patients, with a goal of initiating a pivotal program in 2021” said Chris Bowden, chief medical officer at Agios. More information can be found 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.