The American Society of Hematology (ASH) has created a resource webpage in the midst of the global pandemic to provide public health professionals and the general public with haematology-specific up-to-date COVID-19 information in a series of Frequently Asked Questions (FAQs), as well as insights into COVID-19 treatment and several links to relevant resources, including research updates and health e-stats. Specifically, in the non-malignant category, ASH publishes FAQs on sickle cell disease (SCD, link) and thalassaemia (link) to help guide providers who are less familiar with these diseases to care and treat SCD and thalassaemia patients infected with COVID-19. All of the COVID-19 content is free to access. For more information, see here.

The current SARS-CoV-2 infection [COVID-19] affects primarily the respiratory system, from nasopharyngeal symptoms to full blown pneumonia. Most of the severe and fatal COVID-19 cases seem to be associated with specific high-risk populations, including people over 65 years of age and those with compromised immune status and chronic conditions. Patients with sickle cell disease (SCD) have a weakened immune system and underlying cardiopulmonary co-morbidities that may predispose them to poor outcomes if they become infected with COVID-19. As to better understand how this new virus impacts SCD patients and to provide the best available care for the SCD community worldwide, the Secure-SCD registry has been established in the midst of the current COVID-19 pandemic to capture pediatric and adult SCD cases infected with COVID-19. Providers who care for these patients are encouraged to access the registry here and to report all their cases of COVID-19. The registry contains only de-identified data and is constantly updated to provide accurate and helpful health information and data concerning the disease.

We are proud to inform you that the Clinical Genome Resource (ClinGen) has officially recognized the Haemoglobinopathy Variant Curation Expert Panel (VCEP) as a ClinGen Expert Panel for the clinical interpretation of variants related to haemoglobinopathies. The Haemoglobinopathy VCEP is a joint international and multidisciplinary effort between the ITHANET portal and the Human Variome Project’s Global Globin Network. Briefly, ClinGen VCEPs are tasked with providing disease- and gene-specific adaptations to the 2015 ACMG/AMP sequence variant interpretation guidelines, interpreting variants according to these rules, and publishing these interpretations in ClinVar. It is important to emphasize that ClinGen assertions in ClinVar are recognized by the FDA. It is therefore a great achievement to be recognized as a ClinGen Expert Panel. Having successfully completed step 1 of the application process, the Haemoglobinopathy VCEP has adapted the ACMG/AMP framework for use in haemoglobinopathies and has already submitted the final set of the specified criteria after several rounds of revision, both internally and in discussion with the ClinGen Sequence Variant Interpretation Working Group (SVI WG).

For more information: ClinGen-affiliated Haemoglobinopathy VCEP, 2015 ACMP/AMP guidelines, HVP Global Globin 2020 Challenge

Our recent work published in the Journal of Clinical Medicine describes the first evidence-based gene ranking metric for haemoglobinopathy-specific phenotypes, called IthaScore. The developers and curators of the ITHANET portal, the largest database of modifiers relevant to haemoglobinopathies, recognized the importance of establishing a ranking metric that gives users an estimate of the strength of evidence for genes associated with specific and distinctive clinical phenotypes in haemoglobinopathies. By utilising curated data in the IthaGenes database of the portal, IthaScore successfully reflects current knowledge for well-established disease modifiers, while it can be dynamically updated with emerging evidence. Functional enrichment analysis further demonstrates the capacity of IthaScore to unravel the molecular basis of phenotypic diversity and identify new genes with plausible influence on haemoglobinopathy-specific phenotypes. IthaScore will be incorporated in IthaGenes within the next few weeks. Access the paper here.

Bluebird Bio announces launch of Lentiglobin BB305 gene therapy, branded as ZYNTEGLO, in Germany. This is the first time ZYNTEGLO is commercially available and is priced at 1.575 million euros (1.77 million dollars) per patient.
ZYNTEGLO received conditional marketing authorization by the European Commission in June 2019 as a one-time gene therapy designed to treat all but the most severe forms of transfusion-dependent beta-thalasssaemia in people over 12 years of age, for whom haematopoietic stem cell transplantation from a matched donor is not an option. The company has recruited the German manufacturer apceth Biopharma to produce ZYNTEGLO and is working with specialized institutions in Germany to establish qualified treatment centers. The University Hospital of Heidelberg is the first such center to administer the therapy. The company is negotiating with multiple statutory health insurance providers in Germany to establish a value-based payment agreement where the sum will be broken up into one 315,000 euros installment per year for five years. After the first installment is paid, subsequent installment payments will be made only if the therapy prevents the need for blood transfusions completely.
Source: Bluebird Bio press release here and here.