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Updated: Mar 14, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

8.5K

Review of targeted treatments in fragile X syndrome

Andrew Ligsay1, Randi J Hagerman2

  • 1Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California, Davis Medical Center, Sacramento, CA, USA; University of California, Davis School of Medicine, Sacramento, CA, USA.

Intractable & Rare Diseases Research
|September 28, 2016
PubMed

Insights

Fragile X syndrome (FXS), a common cause of intellectual disability and autism, results from a loss of the fragile X mental retardation protein. Treatments targeting its pathophysiology are advancing, with ongoing clinical trials showing promise.

Area of Science:

  • Neurogenetics
  • Developmental Neuroscience
  • Pharmacology

Background:

  • Fragile X syndrome (FXS) is the most prevalent inherited intellectual disability and a primary single-gene cause of autism spectrum disorders.
  • Pathophysiology involves the loss of the fragile X mental retardation protein, leading to molecular, behavioral, and cognitive impairments.

Purpose of the Study:

  • To review current pre-clinical and clinical trial data for FXS treatments.
  • To outline future directions for FXS clinical research and therapeutic development.

Main Methods:

  • Literature review of pre-clinical studies.
  • Analysis of published clinical trial results in human subjects with FXS.
  • Synthesis of data on targeted therapies, including metabotropic glutamate receptor antagonists and GABA receptor modulators.

Main Results:

  • Numerous targeted treatments have been developed based on improved understanding of FXS pathophysiology.
  • Pre-clinical and clinical data support the efficacy of novel therapeutic strategies.

Conclusions:

  • Advances in understanding FXS pathophysiology have spurred the development of effective targeted treatments.
  • Ongoing and future clinical trials are crucial for advancing therapeutic options for individuals with FXS.
Keywords:
Fragile X syndromeclinical trialstargeted treatments

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