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Innovative Treatments for Rare Anemias

Rare anemias (RA) are mostly hereditary disorders with low prevalence and a broad spectrum of clinical severity, affecting different stages of erythropoiesis or red blood cell components. RA often remains underdiagnosed or misdiagnosed, and treatment options have been limited to supportive care for...

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Autores principales: Cappellini, Maria Domenica, Marcon, Alessia, Fattizzo, Bruno, Motta, Irene
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8171369/
https://www.ncbi.nlm.nih.gov/pubmed/34095760
http://dx.doi.org/10.1097/HS9.0000000000000576
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author Cappellini, Maria Domenica
Marcon, Alessia
Fattizzo, Bruno
Motta, Irene
author_facet Cappellini, Maria Domenica
Marcon, Alessia
Fattizzo, Bruno
Motta, Irene
author_sort Cappellini, Maria Domenica
collection PubMed
description Rare anemias (RA) are mostly hereditary disorders with low prevalence and a broad spectrum of clinical severity, affecting different stages of erythropoiesis or red blood cell components. RA often remains underdiagnosed or misdiagnosed, and treatment options have been limited to supportive care for many years. During the last decades, the elucidation of the molecular mechanisms underlying several RA paved the way for developing new treatments. Innovative treatments other than supportive care and allogeneic bone marrow transplantation are currently in clinical trials for β-thalassemias, sickle cell disease (SCD), and congenital hemolytic anemias. Recently, luspatercept, an activin receptor ligand trap targeting ineffective erythropoiesis, has been approved as the first pharmacological treatment for transfusion-dependent β-thalassemia. L-glutamine, voxelotor, and crizanlizumab are new drugs approved SCD, targeting different steps of the complex pathophysiological mechanism. Gene therapy represents an innovative and encouraging strategy currently under evaluation in several RA and recently approved for β-thalassemia. Moreover, the advent of gene-editing technologies represents an additional option, mainly focused on correcting the defective gene or editing the expression of genes that regulate fetal hemoglobin synthesis. In this review, we aim to update the status of innovative treatments and the ongoing trials and discuss RA treatments’ future directions. Interestingly, several molecules that showed promising results for treating one of these disorders are now under evaluation in the others. In the near future, the management of RA will probably consist of polypharmacotherapy tailored to patients’ characteristics.
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spelling pubmed-81713692021-06-03 Innovative Treatments for Rare Anemias Cappellini, Maria Domenica Marcon, Alessia Fattizzo, Bruno Motta, Irene Hemasphere Review Rare anemias (RA) are mostly hereditary disorders with low prevalence and a broad spectrum of clinical severity, affecting different stages of erythropoiesis or red blood cell components. RA often remains underdiagnosed or misdiagnosed, and treatment options have been limited to supportive care for many years. During the last decades, the elucidation of the molecular mechanisms underlying several RA paved the way for developing new treatments. Innovative treatments other than supportive care and allogeneic bone marrow transplantation are currently in clinical trials for β-thalassemias, sickle cell disease (SCD), and congenital hemolytic anemias. Recently, luspatercept, an activin receptor ligand trap targeting ineffective erythropoiesis, has been approved as the first pharmacological treatment for transfusion-dependent β-thalassemia. L-glutamine, voxelotor, and crizanlizumab are new drugs approved SCD, targeting different steps of the complex pathophysiological mechanism. Gene therapy represents an innovative and encouraging strategy currently under evaluation in several RA and recently approved for β-thalassemia. Moreover, the advent of gene-editing technologies represents an additional option, mainly focused on correcting the defective gene or editing the expression of genes that regulate fetal hemoglobin synthesis. In this review, we aim to update the status of innovative treatments and the ongoing trials and discuss RA treatments’ future directions. Interestingly, several molecules that showed promising results for treating one of these disorders are now under evaluation in the others. In the near future, the management of RA will probably consist of polypharmacotherapy tailored to patients’ characteristics. Lippincott Williams & Wilkins 2021-06-01 /pmc/articles/PMC8171369/ /pubmed/34095760 http://dx.doi.org/10.1097/HS9.0000000000000576 Text en Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the European Hematology Association. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY) (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Review
Cappellini, Maria Domenica
Marcon, Alessia
Fattizzo, Bruno
Motta, Irene
Innovative Treatments for Rare Anemias
title Innovative Treatments for Rare Anemias
title_full Innovative Treatments for Rare Anemias
title_fullStr Innovative Treatments for Rare Anemias
title_full_unstemmed Innovative Treatments for Rare Anemias
title_short Innovative Treatments for Rare Anemias
title_sort innovative treatments for rare anemias
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8171369/
https://www.ncbi.nlm.nih.gov/pubmed/34095760
http://dx.doi.org/10.1097/HS9.0000000000000576
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