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Clinical Development of Targeted Fragile X Syndrome Treatments: An Industry Perspective

Fragile X syndrome (FXS) is the leading known cause of inherited intellectual disability and autism spectrum disorder. It is caused by a mutation of the fragile X mental retardation 1 (FMR1) gene, resulting in a deficit of fragile X mental retardation protein (FMRP). The clinical presentation of FXS...

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Autores principales: Lee, Anna W., Ventola, Pamela, Budimirovic, Dejan, Berry-Kravis, Elizabeth, Visootsak, Jeannie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6315847/
https://www.ncbi.nlm.nih.gov/pubmed/30563047
http://dx.doi.org/10.3390/brainsci8120214
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author Lee, Anna W.
Ventola, Pamela
Budimirovic, Dejan
Berry-Kravis, Elizabeth
Visootsak, Jeannie
author_facet Lee, Anna W.
Ventola, Pamela
Budimirovic, Dejan
Berry-Kravis, Elizabeth
Visootsak, Jeannie
author_sort Lee, Anna W.
collection PubMed
description Fragile X syndrome (FXS) is the leading known cause of inherited intellectual disability and autism spectrum disorder. It is caused by a mutation of the fragile X mental retardation 1 (FMR1) gene, resulting in a deficit of fragile X mental retardation protein (FMRP). The clinical presentation of FXS is variable, and is typically associated with developmental delays, intellectual disability, a wide range of behavioral issues, and certain identifying physical features. Over the past 25 years, researchers have worked to understand the complex relationship between FMRP deficiency and the symptoms of FXS and, in the process, have identified several potential targeted therapeutics, some of which have been tested in clinical trials. Whereas most of the basic research to date has been led by experts at academic institutions, the pharmaceutical industry is becoming increasingly involved with not only the scientific community, but also with patient advocacy organizations, as more promising pharmacological agents are moving into the clinical stages of development. The objective of this review is to provide an industry perspective on the ongoing development of mechanism-based treatments for FXS, including identification of challenges and recommendations for future clinical trials.
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spelling pubmed-63158472019-01-11 Clinical Development of Targeted Fragile X Syndrome Treatments: An Industry Perspective Lee, Anna W. Ventola, Pamela Budimirovic, Dejan Berry-Kravis, Elizabeth Visootsak, Jeannie Brain Sci Review Fragile X syndrome (FXS) is the leading known cause of inherited intellectual disability and autism spectrum disorder. It is caused by a mutation of the fragile X mental retardation 1 (FMR1) gene, resulting in a deficit of fragile X mental retardation protein (FMRP). The clinical presentation of FXS is variable, and is typically associated with developmental delays, intellectual disability, a wide range of behavioral issues, and certain identifying physical features. Over the past 25 years, researchers have worked to understand the complex relationship between FMRP deficiency and the symptoms of FXS and, in the process, have identified several potential targeted therapeutics, some of which have been tested in clinical trials. Whereas most of the basic research to date has been led by experts at academic institutions, the pharmaceutical industry is becoming increasingly involved with not only the scientific community, but also with patient advocacy organizations, as more promising pharmacological agents are moving into the clinical stages of development. The objective of this review is to provide an industry perspective on the ongoing development of mechanism-based treatments for FXS, including identification of challenges and recommendations for future clinical trials. MDPI 2018-12-05 /pmc/articles/PMC6315847/ /pubmed/30563047 http://dx.doi.org/10.3390/brainsci8120214 Text en © 2018 by the authors. 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 (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Lee, Anna W.
Ventola, Pamela
Budimirovic, Dejan
Berry-Kravis, Elizabeth
Visootsak, Jeannie
Clinical Development of Targeted Fragile X Syndrome Treatments: An Industry Perspective
title Clinical Development of Targeted Fragile X Syndrome Treatments: An Industry Perspective
title_full Clinical Development of Targeted Fragile X Syndrome Treatments: An Industry Perspective
title_fullStr Clinical Development of Targeted Fragile X Syndrome Treatments: An Industry Perspective
title_full_unstemmed Clinical Development of Targeted Fragile X Syndrome Treatments: An Industry Perspective
title_short Clinical Development of Targeted Fragile X Syndrome Treatments: An Industry Perspective
title_sort clinical development of targeted fragile x syndrome treatments: an industry perspective
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6315847/
https://www.ncbi.nlm.nih.gov/pubmed/30563047
http://dx.doi.org/10.3390/brainsci8120214
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