28 February 2018 marks the 14th edition of Rare Disease Day, coordinated by EURORDIS, aiming to raise awareness about rare diseases and their impact on patients' lives. The central message of this year's campaign "Rare is many. Rare is strong. Rare is proud" focuses on reframing the word 'rare', representing over 6000 rare diseases and affecting an estimated 300 million people worldwide. This year's campaign seeks to relay patient stories across diseases and borders through the dissemination of multilingual promotional materials for social media and the Rare Disease Day 2021 animated video, translated in thirty-seven languages. You can get involved on social media by using #RareDiseaseDay to share your colours with the rare disease community. More information: Rare Disease Day 2022

Global Blood Therapeutics, Inc. (GBT) announced the approve of Marketing Authorization for Oxbryta® (voxelotor) for the treatment of hemolytic anemia due to sickle cell disease (SCD) in adult and pediatric patients 12 years of age and older from the European Commission (EC). Oxbryta, given as a once-daily oral treatment, is the first medicine approved in Europe that directly suppresses the sickle hemoglobin (HbS) polymerization, the molecular basis of sickling and destruction of red blood cells in SCD. Eligible patients may take the therapy as monotherapy or in combination with hydroxycarbamide (hydroxyurea), a standard treatment to reduce the frequency of vaso-occlusive crises — episodes of acute pain caused by sickled red blood cells blocking blood flow — and the need for blood transfusions. Oxbryta demonstrated a favorable safety profile with limited and transitory adverse events compared with placebo groups. For more information: Global Blood Therapeutics, press release.

Bluebird Bio announced in December 2021 the suspension of its lovotibeglogene autotemcel (lovo-cel; formerly LentiGlobin® for SCD, bb1111) gene therapy clinical programme for sickle cell disease (SCD) in patients under the age of 18. The partial, temporary suspension relates to an ongoing investigation by bluebird bio into an adolescent patient with persistent, non-transfusion-dependent anaemia following treatment with lovo-cel, now 18 months post-treatment. This patient is clinically well and there is no evidence of malignancy or clonal predominance. Enrollment and dosing for patients 18 and older living with SCD in the HGB-206, HGB-210 and LTF-307 clinical studies, as well as follow up for treated patients of all ages in all studies are continuing as planned. For more information: press release

Global Blood Therapeutics, Inc. (GBT) (NASDAQ: GBT) announced that the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) adopted a positive opinion recommending marketing authorization for Oxbryta® (voxelotor) tablets for the treatment of hemolytic anaemia due to sickle cell disease (SCD) in adults and pediatric patients 12 years of age and older as monotherapy or in combination with hydroxyurea. Based on this CHMP opinion, a decision by the European Commission (EC), which authorizes marketing approval in the European Union, is expected in the first quarter of 2022. If approved by the EC, Oxbryta will receive marketing authorization in all EU member states and Iceland, Liechtenstein and Norway. Furthermore, GBT announced the U.S. Food and Drug Administration (FDA) has granted accelerated approval of a supplemental New Drug Application (sNDA) for Oxbryta tablets for the treatment SCD in children ages 4 to less than 12 years. This approval expands the previously approved use of Oxbryta to treat SCD in patients ages 12 years and older in the United States. The FDA also approved GBT’s separate New Drug Application (NDA) for Oxbryta tablets for oral suspension, a new dispersible, once-daily tablet dosage form suitable for patients ages 4 to less than 12 years as well as for older patients who have difficulty swallowing whole tablets. Oxbryta is the first and only approved medicine that directly targets sickle hemoglobin polymerization, the root cause of the sickling and destruction of red blood cells in SCD. For more information see press releases here, here, and here.

Sangamo Therapeutics announced updated preliminary proof-of-concept efficacy and safety data from the Phase 1/2 PRECIZN-1 study of SAR445136, a zinc finger nuclease gene-edited cell therapy candidate in development with Sanofi for the treatment of sickle cell disease (SCD). The therapeutic product is manufactured by ex vivo gene editing of a patient's own (autologous) hematopoietic stem cells using non-viral delivery of zinc finger nuclease technology targeting the BCL11a gene erythroid-specific enhancer (ESE) to increase endogenous fetal hemoglobin (HbF) production. None of the four treated patients required blood transfusions post engraftment, while total hemoglobin stabilized by Week 26 after treatment with SAR445136 for all patients. Fetal hemoglobin level increased from 0.1-11% at screening to 14-39% by Week 26 in all four patients and was 38% in the longest-treated patient at 91 weeks. Percent F cells increased to 64-96% by 39 weeks of follow-up in all four patients, persisting at 99% in the patient with 91 weeks of follow-up. The SAR445136 investigational drug product had on-target BCL11A gene modification (61-78%) in all four patients. Most adverse events reported in the screening, mobilization, apheresis and conditioning periods were SCD-related events. No adverse events related to SAR445136 were assessed. The study is ongoing. For more information: press release