Experimental therapies for osteopetrosis


The medical treatment of osteopetrosis is an ongoing clinical problem. There are no effective and safer therapeutic approaches for all its forms. However, recent discoveries concerning the etiology and the pathogenesis of osteopetrosis, the development of dedicated cellular and animal models, and the advent of new technologies are paving the way for the development of targeted and safer therapies for both lethal and milder osteopetrosis. This review summarizes the huge effort and successes made by researchers to identify and develop new experimental approaches with this objective, such as the use of non-genotoxic myeloablation, gene correction of inducible Pluripotent Stem Cells (iPSCs), lentiviral-based gene therapy, protein replacement, prenatal treatment, osteoclast precursors transplantation and RNA Interference. Copyright © 2022 Elsevier Inc. All rights reserved.

Authors Maurizi A
Journal Bone
Publication Date 2022 Dec;165:116567
PubMed 36152941
DOI 10.1016/j.bone.2022.116567

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