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New perspectives on the treatment of skeletal dysplasia

The last few decades have been marked by the identification of numerous genes implicated in genetic disorders, helping in the elucidation of the underlying pathophysiology of these conditions. This has allowed new therapeutic approaches to emerge such as cellular therapy, gene therapy, or pharmacolo...

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Detalles Bibliográficos
Autores principales: Marzin, Pauline, Cormier-Daire, Valérie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7054735/
https://www.ncbi.nlm.nih.gov/pubmed/32166011
http://dx.doi.org/10.1177/2042018820904016
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author Marzin, Pauline
Cormier-Daire, Valérie
author_facet Marzin, Pauline
Cormier-Daire, Valérie
author_sort Marzin, Pauline
collection PubMed
description The last few decades have been marked by the identification of numerous genes implicated in genetic disorders, helping in the elucidation of the underlying pathophysiology of these conditions. This has allowed new therapeutic approaches to emerge such as cellular therapy, gene therapy, or pharmacological therapy for various conditions. Skeletal dysplasias are good models to illustrate these scientific advances. Indeed, several therapeutic strategies are currently being investigated in osteogenesis imperfecta; there are ongoing clinical trials based on pharmacological approaches, targeting signaling pathways in achondroplasia and fibrodysplasia ossificans progressiva or the endoplasmic reticulum stress in metaphyseal dysplasia type Schmid or pseudoachondroplasia. Moreover, the treatment of hypophosphatasia or Morquio A disease illustrates the efficacy of enzyme drug replacement. To provide a highly specialized multidisciplinary approach, these treatments are managed by reference centers. The emergence of treatments in skeletal dysplasia provides new perspectives on the prognosis of these severe conditions and may change prenatal counseling in these diseases over the coming years.
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spelling pubmed-70547352020-03-12 New perspectives on the treatment of skeletal dysplasia Marzin, Pauline Cormier-Daire, Valérie Ther Adv Endocrinol Metab Review The last few decades have been marked by the identification of numerous genes implicated in genetic disorders, helping in the elucidation of the underlying pathophysiology of these conditions. This has allowed new therapeutic approaches to emerge such as cellular therapy, gene therapy, or pharmacological therapy for various conditions. Skeletal dysplasias are good models to illustrate these scientific advances. Indeed, several therapeutic strategies are currently being investigated in osteogenesis imperfecta; there are ongoing clinical trials based on pharmacological approaches, targeting signaling pathways in achondroplasia and fibrodysplasia ossificans progressiva or the endoplasmic reticulum stress in metaphyseal dysplasia type Schmid or pseudoachondroplasia. Moreover, the treatment of hypophosphatasia or Morquio A disease illustrates the efficacy of enzyme drug replacement. To provide a highly specialized multidisciplinary approach, these treatments are managed by reference centers. The emergence of treatments in skeletal dysplasia provides new perspectives on the prognosis of these severe conditions and may change prenatal counseling in these diseases over the coming years. SAGE Publications 2020-03-03 /pmc/articles/PMC7054735/ /pubmed/32166011 http://dx.doi.org/10.1177/2042018820904016 Text en © The Author(s), 2020 https://creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Review
Marzin, Pauline
Cormier-Daire, Valérie
New perspectives on the treatment of skeletal dysplasia
title New perspectives on the treatment of skeletal dysplasia
title_full New perspectives on the treatment of skeletal dysplasia
title_fullStr New perspectives on the treatment of skeletal dysplasia
title_full_unstemmed New perspectives on the treatment of skeletal dysplasia
title_short New perspectives on the treatment of skeletal dysplasia
title_sort new perspectives on the treatment of skeletal dysplasia
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7054735/
https://www.ncbi.nlm.nih.gov/pubmed/32166011
http://dx.doi.org/10.1177/2042018820904016
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