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Molecular and Cellular Pediatrics

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Open Access 01-12-2014 | Mini review

The quest for fragile X biomarkers

Author: Cara J Westmark

Published in: Molecular and Cellular Pediatrics | Issue 1/2014

Abstract

Background

Fragile X is the most common form of inherited intellectual disability and the leading known genetic cause of autism. There is currently no cure or approved medication for fragile X although various drugs target specific disease symptoms and a large number of therapeutics are in various stages of clinical development. Multiple recent clinical trials have failed on their primary endpoints indicating that there is a compelling need for validated biomarkers and outcome measures in fragile X.

Findings

There are currently no validated blood-based biomarkers to assess disease severity or to monitor drug efficacy in fragile X syndrome. Herein, we review candidate blood protein biomarkers including extracellular-regulated kinase, phosphoinositide 3-kinase, matrix metalloproteinase 9, amyloid-beta and amyloid-beta protein precursor.

Conclusions

Bench-to-bedside plans for fragile X syndrome are severely limited by the lack of validated outcome measures. The reviewed candidate biomarkers are at early stages of validation and deserve further investigation.

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Title: The quest for fragile X biomarkers
Author: Cara J Westmark
Publication date: 01-12-2014
Publisher: Springer Berlin Heidelberg
Published in: Molecular and Cellular Pediatrics / Issue 1/2014
Electronic ISSN: 2194-7791
DOI: https://doi.org/10.1186/s40348-014-0001-3

2024 ASCO Annual Meeting

Springer Medicine

The quest for fragile X biomarkers

Abstract

Background

Findings

Conclusions

2024 ASCO Annual Meeting

Springer Medicine

Abstract

Background

Findings

Conclusions

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