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Review
. 2022 Mar 1;97(3):E120-E125.
doi: 10.1002/ajh.26458. Epub 2022 Jan 24.

Who should be eligible for gene therapy clinical trials in red blood cell pyruvate kinase deficiency (PKD)?: Toward an expanded definition of severe PKD

Jonathan D Schwartz  1 , Wilma Barcellini  2 , Rachel F Grace  3 , Paola Bianchi  2 , Alberto Zanella  2 , José Luis López Lorenzo  4 , Julián Sevilla  5   6 , Ami J Shah  7 , Bertil Glader  7 , Eileen Nicoletti  1 , Susana Navarro Ordoñez  6   8 , José Carlos Segovia  6   8
Affiliations
Review

Who should be eligible for gene therapy clinical trials in red blood cell pyruvate kinase deficiency (PKD)?: Toward an expanded definition of severe PKD

Jonathan D Schwartz et al. Am J Hematol. .
No abstract available

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Conflict of interest statement

Jonathan D. Schwartz is an employee and equity shareholder of Rocket Pharmaceuticals, Inc. Wilma Barcellini is a consultant for Agios Pharmaceuticals, Inc. Rachel F. Grace receives research funding from Agios Pharmaceuticals, Inc., Novartis Pharmaceuticals, Inc. and Dova Pharmaceuticals, Inc. She additionally serves on advisory committees for Principia Biopharma, Inc. and Dova Pharmaceuticals, Inc. Paola Bianchi is a consultant for Agios Pharmaceuticals, Inc. Alberto Zanella is a PKD IDMC member for Agios Pharmaceuticals, Inc. and Rocket Pharmaceuticals, Inc. José Luis López Lorenzo has no conflict of interest to disclose. Julián Sevilla receives honoraria and is a consultant and/or advisor for the following: Amgen, Inc., Novartis Pharmaceuticals, Inc., Miltenyi Biotech, Inc., Sobi, Inc., Rocket Pharmaceuticals, Inc.) and has licensed medicinal products from Rocket Pharmaceuticals, Inc. Ami J. Shah has no conflict of interest to disclose. Bertil Glader receives research funding from Agios Pharmaceuticals, Inc. Eileen Nicoletti is an employee and equity shareholder of Rocket Pharmaceuticals, Inc. Susana Navarro Ordoñez has licensed medicinal products and receives research funding and equity from Rocket Pharmaceuticals, Inc. José Carlos Segovia has no conflict of interest to disclose.

References

    1. Al‐Samkari H, van Beers EJ, Kuo KHM, et al. The variable manifestations of disease in pyruvate kinase deficiency and their management. Haematologica. 2020;105(9):2229‐2239. - PMC - PubMed
    1. Grace RF, Rose C, Layton M, et al. Safety and efficacy of mitapivat in pyruvate kinase deficiency. N Engl J Med. 2019;381(10):933‐944. - PubMed
    1. Shah AJ, Lopez Lorenzo JL, Navarro S, et al. Lentiviral mediated gene therapy for pyruvate kinase deficiency: interim results of a global phase 1 study for adult and pediatric patients. Blood. 2021;132(Suppl 2):A563.
    1. Grace RF, Bianchi P, van Beers EJ, et al. Clinical spectrum of pyruvate kinase deficiency: data from the pyruvate kinase natural history study. Blood. 2018;131(20):2183‐2192. - PubMed
    1. Bianchi P, Fermo E, Lezon‐Geyda K, et al. Genotype‐phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency. Am J Hematol. 2020;95(5):472‐482. - PMC - PubMed

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