The FDA granted Rare Pediatric Disease (RPD) designation for EDIT-301 (Editas Medicine, Inc.), an experimental, autologous cell medicine intended for the treatment of sickle cell disease (SCD). EDIT-301 comprises sickle patient haematopoietic stem/progenitor cells (HSPCs) that are genetically modified using a highly specific and efficient CRISPR/Cas12a (also known as Cpf1) ribonucleoprotein (RNP) to edit the γ-globin gene promoter region in the beta-globin locus. Red blood cells (RBCs) derived from EDIT-301 HSPCs demonstrate a sustained increase in foetal haemoglobin (HbF) production, which inhibits polymerisation of sickle haemoglobin (HbS) in RBCs, a hallmark of SCD, and has the potential to provide long-term treatment benefits for people living with SCD. The Company expects to file to the FDA for Investigational New Drug (IND) for SCD by the end of 2020. Source: ASH News

Supported by the American Society of Hematology (ASH), the first set of recommendations aimed at increasing capacity for specialized care for adults living with sickle cell disease (SCD) have recently been published in Blood Advances. SCD is a debilitating, lifelong disease with severe complications beginning early in life. Given improvements in care, most children with SCD survive into adulthood. Across the United States, surveys suggest significant gaps and dissatisfaction with adult sickle cell care for reasons such as difficulties with access, perceived discrimination, and lack of clinician confidence and knowledge in managing SCD complication. The proposed recommendations codify the components of establishing SCD adult care centers. These include:

  • Multidisciplinary, team-based, evidence-guided care that is coordinated throughout the institution.
  • The SCD center as the recognized authority for managing SCD within the institution.
  • A physician lead who is considered an SCD specialist.
  • One or more social workers, a patient coordinator, and dedicated nursing staff.
  • The ability to offer acute and chronic pain management, transfusion, and access to specialists.

The paper makes recommendations for additional important, but not required, personnel such as clinic managers, behavioral health staff and psychologists, physical and occupational therapists, and pharmacists. Altogether, the recommendations define comprehensive care for SCD as team-based, holistic, and tailored to the unique needs of individuals with SCD.

More information: Blood Advances, ASH news

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. ENROL online kick-off meeting was successfully held last July 2nd with more than 120 registered participants, including ERN-EuroBloodNet members, affiliated partners, candidates, EURORDIS and patients’ representatives, European Hematology Association (EHA) representatives, researchers and registries’ curators. The meeting started with a welcome and overview of ENROL from the platform coordinator followed by two blocks of presentations highlighting ENROL implementation by the different tasks leaders and the involvement of the different stakeholders as fundamental pillars for the successful implementation of ENROL, including patients, hospitals’ CEOs and the legal and ethical teams. For more information, the main outcomes of the meeting and the slides presented are available here.

Xromi® (Nova Laboratories Ltd) has been approved by the Scottish Medicines Consortium for use within NHS Scotland to treat sickle cell disease (SCD) in patients as young as 2 years of age. Xromi® is a strawberry-flavored oral formulation of hydroxycarbamide (hydroxyurea) intended for the prevention of vaso-occlusive complications in SCD patients who have difficulty swalling tablets. This is the first  hydroxycarbamide formulation appropriate for young children. Xromi® is available on a prescription-only basis to healthcare specialists in the UK, EU and the Middle East, with plans for worldwide availability.

See here for more info on Xromi®. Source: Sickle Cell Disease News

FT-4202 (Forma Therapeutics Inc.) has been given Fast Track designation by the U.S. Food and Drug Administration (FDA) as a potential disease-modifying therapy for pediatric patients with sickle cell disease (SCD). FT-4202 is a novel, oral, once-daily pyruvate kinase-R (PKR) activator with a favorable tolerability profile and favorable pharmacokinetic/pharmacodynamic effects in an ongoing Phase 1 clinical trial in patients with SCD (NCT03815695). PKR is a key metabolic enzyme in energy production and has an important role in maintaining the health of red blood cells (RBCs). In SCD, reduced PKR activity leads to accumulation of 2,3-diphospho-glycerate (2,3-DPG), a byproduct of cellular metabolism that decreases the ability of haemoglobin to bind oxygen, thus favoring polymerization of deoxy-HbS - a hallmark of SCD. By increasing PKR activity, FT-4202 is thought to lower the levels of 2,3-DPG, potentially increasing haemoglobin oxygen affinity and reducing the sickling of RBCs. FT-4202 effects are anticipated to increase haemoglobin levels (lessening anaemia) and reduce the frequency of painful vaso-occlusive crises. Forma Therapeutics plans to start a global Phase 2/3 study in SCD patients later this year. Source: Sickle cell disease News, TIF.

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