Cargando…
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...
Autores principales: | , , , , |
---|---|
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 |
_version_ | 1783384391435681792 |
---|---|
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. |
format | Online Article Text |
id | pubmed-6315847 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT leeannaw clinicaldevelopmentoftargetedfragilexsyndrometreatmentsanindustryperspective AT ventolapamela clinicaldevelopmentoftargetedfragilexsyndrometreatmentsanindustryperspective AT budimirovicdejan clinicaldevelopmentoftargetedfragilexsyndrometreatmentsanindustryperspective AT berrykraviselizabeth clinicaldevelopmentoftargetedfragilexsyndrometreatmentsanindustryperspective AT visootsakjeannie clinicaldevelopmentoftargetedfragilexsyndrometreatmentsanindustryperspective |