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.

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

The Cooley’s Anemia Foundation (CAF) is accepting applications for its 2019-2020 "Patient Incentive Awards" and "Educational Incentive Awards for Children of Individuals with Thalassaemia". The aim of these awards is to support patients and their families to further their education and career goals towards more fulfilling, active lives.
Application Deadline: February 14, 2020
Eligibility: U.S. residents currently enrolled in a graduate, undergraduate, associate, certificate or vocational training programme.
Requirements: Patient incentive Award, Educational Incentive Award Program for Children of Individuals with Thalassemia

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.

 

La Jolla Pharmaceutical Company has announced plans to discontinue Study LJ401-BT01 due to mixed clinical results. LJPC-401 is a synthetic human hepcidin for the treatment of conditions characterized by iron overload. Study LJ401-BT01 (NCT03381833) is designed to evaluate the safety and efficacy of LJPC-401 as a treatment for iron overload in beta thalassemia patients who, despite chelation therapy, have cardiac iron levels above normal. A recent interim analysis involving half of the enrolled population suggested lack of efficacy, with patients on the treatment and control arms exhibiting similar changes in cardiac iron levels, the primary endpoint, as well as key secondary endpoints. For more information, read La Jolla News here.

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