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Advantages and Disadvantages of Different Treatment Methods in Achondroplasia: A Review

Achondroplasia (ACH) is a disease caused by a missense mutation in the FGFR3 (fibroblast growth factor receptor 3) gene, which is the most common cause of short stature in humans. The treatment of ACH is necessary and urgent because untreated achondroplasia has many complications, both orthopedic an...

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Detalles Bibliográficos
Autores principales: Wrobel, Wiktoria, Pach, Emilia, Ben-Skowronek, Iwona
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8197470/
https://www.ncbi.nlm.nih.gov/pubmed/34070375
http://dx.doi.org/10.3390/ijms22115573
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author Wrobel, Wiktoria
Pach, Emilia
Ben-Skowronek, Iwona
author_facet Wrobel, Wiktoria
Pach, Emilia
Ben-Skowronek, Iwona
author_sort Wrobel, Wiktoria
collection PubMed
description Achondroplasia (ACH) is a disease caused by a missense mutation in the FGFR3 (fibroblast growth factor receptor 3) gene, which is the most common cause of short stature in humans. The treatment of ACH is necessary and urgent because untreated achondroplasia has many complications, both orthopedic and neurological, which ultimately lead to disability. This review presents the current and potential pharmacological treatments for achondroplasia, highlighting the advantages and disadvantages of all the drugs that have been demonstrated in human and animal studies in different stages of clinical trials. The article includes the potential impacts of drugs on achondroplasia symptoms other than short stature, including their effects on spinal canal stenosis, the narrowing of the foramen magnum and the proportionality of body structure. Addressing these effects could significantly improve the quality of life of patients, possibly reducing the frequency and necessity of hospitalization and painful surgical procedures, which are currently the only therapeutic options used. The criteria for a good drug for achondroplasia are best met by recombinant human growth hormone at present and will potentially be met by vosoritide in the future, while the rest of the drugs are in the early stages of clinical trials.
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spelling pubmed-81974702021-06-13 Advantages and Disadvantages of Different Treatment Methods in Achondroplasia: A Review Wrobel, Wiktoria Pach, Emilia Ben-Skowronek, Iwona Int J Mol Sci Review Achondroplasia (ACH) is a disease caused by a missense mutation in the FGFR3 (fibroblast growth factor receptor 3) gene, which is the most common cause of short stature in humans. The treatment of ACH is necessary and urgent because untreated achondroplasia has many complications, both orthopedic and neurological, which ultimately lead to disability. This review presents the current and potential pharmacological treatments for achondroplasia, highlighting the advantages and disadvantages of all the drugs that have been demonstrated in human and animal studies in different stages of clinical trials. The article includes the potential impacts of drugs on achondroplasia symptoms other than short stature, including their effects on spinal canal stenosis, the narrowing of the foramen magnum and the proportionality of body structure. Addressing these effects could significantly improve the quality of life of patients, possibly reducing the frequency and necessity of hospitalization and painful surgical procedures, which are currently the only therapeutic options used. The criteria for a good drug for achondroplasia are best met by recombinant human growth hormone at present and will potentially be met by vosoritide in the future, while the rest of the drugs are in the early stages of clinical trials. MDPI 2021-05-25 /pmc/articles/PMC8197470/ /pubmed/34070375 http://dx.doi.org/10.3390/ijms22115573 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Wrobel, Wiktoria
Pach, Emilia
Ben-Skowronek, Iwona
Advantages and Disadvantages of Different Treatment Methods in Achondroplasia: A Review
title Advantages and Disadvantages of Different Treatment Methods in Achondroplasia: A Review
title_full Advantages and Disadvantages of Different Treatment Methods in Achondroplasia: A Review
title_fullStr Advantages and Disadvantages of Different Treatment Methods in Achondroplasia: A Review
title_full_unstemmed Advantages and Disadvantages of Different Treatment Methods in Achondroplasia: A Review
title_short Advantages and Disadvantages of Different Treatment Methods in Achondroplasia: A Review
title_sort advantages and disadvantages of different treatment methods in achondroplasia: a review
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8197470/
https://www.ncbi.nlm.nih.gov/pubmed/34070375
http://dx.doi.org/10.3390/ijms22115573
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