Case Report: Everolimus reduced bone turnover markers but showed no clinical benefit in a patient with severe progressive osseous heteroplasia

Case Report: Everolimus reduced bone turnover markers but showed no clinical benefit in a patient with severe progressive osseous heteroplasia

BackgroundProgressive osseous heteroplasia (POH) is an ultrarare genetic disorder characterized by an inactivating mutation in the GNAS gene that causes heterotopic ossification. Inhibition of the mammalian target of the rapamycin (mTOR) signalling pathway has been proposed as a therapy for progress...

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Main Authors: M. Cebey-López, M. J. Currás-Tuala, J. Gómez-Rial, I. Rivero-Calle, J. Pardo-Seco, R. Mendez-Gallart, S. Pischedda, A. Gómez-Carballa, R. Barral-Arca, A. Justicia-Grande, S. Viz-Lasheras, C. Rodríguez-Tenreiro, R. Gómez, A. Salas, F. Martinón-Torres
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-11-01
Series:Frontiers in Pediatrics
Subjects:
progressive osseous heteroplasia
Everolimus
bone turnover
bone metabolism
mTOR
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.936780/full

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https://www.frontiersin.org/articles/10.3389/fped.2022.936780/full

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