Vertex Pharmaceuticals Inc. (VRTX) and CRISPR Therapeutics (CRSP) presented new data on exa-cel (CTX001™) at the European Hematology Association (EHA) Congress. Forty-four patients with transfusion-dependent β-thalassemia (TDT) and thirty-one with severe sickle cell disease (SCD) were monitored from 1.2 to 37.2 months after exa-cel dosing. TDT patients had substantial mean increases in fetal hemoglobin (HbF) and corresponding increases in mean total hemoglobin (Hb), while all severe SCD were free of VOCs and mean HbF of approximately 40% by month 3 and 4 respectively. The data from 75 patients demonstrate that exa-cel has the potential to be a one-time functional cure, with safety profile be consistent with myeloablative conditioning and autologous stem cell transplant. For more information, press release.

Global Blood Therapeutics, Inc. (GBT) announced the presentation of five abstracts, related to the Sickle Cell Disease (SCD) programs, at the European Hematology Association (EHA) 2022 Hybrid Congress which will be held from June 9-12 in Vienna, Austria. All presentations are related to the Sickle Cell Disease (SCD) programs and include new real-world evidence data on Oxbryta® (voxelotor), data from the Phase 1 study of the next generation sickle hemoglobin (HbS) polymerization inhibitor GBT021601 (GBT601), initial findings from the Sickle Cell Health Awareness, Perspectives and Experiences (SHAPE) survey and patient and caregiver perspectives on the unmet needs in SCD. “Data presented at this year’s Congress will contribute to the growing body of evidence that could transform the treatment of sickle cell disease,” said Kim Smith-Whitley, M.D., executive vice president and head of research and development at GBT. For more information: Global Blood Therapeutics, press release.

Imara's IMR-687, marketed under the brand name Tovinontrine, is an oral disease-modifying treatment for sickle cell disease (SCD) and β-thalassaemia. IMR-687 was developed to selectively block phosphodiesterase 9 (PDE9) in red blood cells, which in turn increases cyclic GMP levels, as a means to reactivate the production of foetal haemoglobin (HbF), a well-established modifier of disease severity. Findings from the interim analyses in the Phase IIb studies forces Imara to discontinue both the Ardent and Forte trials, as well as the further development of tovinontrine in SCD and beta-thalassaemia. While the treatment was generally well-tolerated, no meaningful benefit was achieved in the rate of vaso-occlusive crises (SCD), transfusion burden or improvement in most disease-related biomarkers (β-thalassaemia). The company is grateful to the patients, investigators and their teams for their participation in these trials and to the extended Imara team for their role and dedication in generating the comprehensive interim results. Additional information: press release.

International Thalassaemia Day is marked on May 8 every year and is observed by the Thalassaemia International Federation (TIF). This International Thalassaemia Day, recognizes and celebrates the power of knowledge and brings the global haemoglobin disorders community together, by raising awareness, sharing knowledge, and bringing thalassaemia to the attention of as many people as possible worldwide. “Be Aware. Share. Care: Working with the global community as one to improve thalassaemia knowledge”, is the theme of 2022 day and is an open call to action to all supporters to promote awareness about thalassaemia and its global impact and share essential information and knowledge to support the best possible health, social and other care of patients with this disease. The theme seeks to inspire every individual to contribute, at the personal level, to the fight against thalassaemia and serves as a powerful reminder that everyone has a substantial role to play and a responsibility to act. For more info, see here.

The Global Globin Network (GGN), an initiative of the Human Variome Project (HVP), addresses the global health problems imposed by haemoglobinopathies, with focus on the integration of advanced diagnostic techniques in health systems and the systematic collection and sharing of variation and epidemiological data in internationally recognized databases. By pooling knowledge globally, GGN allows data-driven implementation of disease management and prevention programmes. In an article published in the March 31 issue of the Journal of Personalised Medicine, the GGN proposes a universally applicable system for evaluating and grouping countries based on qualitative indicators according to the quality of care, treatment, and prevention strategies for haemoglobinopathies. This approach serves both as a baseline for evaluating progress over time and for identifying areas of local priority that could benefit from knowledge and skill transfer under the proposed improvement scheme. All curated data is based on expert opinion and is accessible through the ITHANET Portal (https://www.ithanet.eu/). Country groupings into four categories A through D are based, respectively, on A) availability of well-established services with a national system for prevention and control, B) partial availability of services as part of a fragmented national control programme, C) availability of services but not as part of a sustainable national control programme, and D) scarcity of services or lack thereof. The classification of countries into groups based on similar needs and priorities for knowledge sharing and collaboration seeks to narrow the gap between countries, towards improved health outcomes for patients nationally within GGN partner countries and internationally. The paper is available here.