Fragile X Syndrome Pre-Clinical Research: Comparing Mouse- And Human-Based Models

Methods Mol Biol. 2019;1942:155-162. doi: 10.1007/978-1-4939-9080-1_13.


Despite almost 30 years of biomedical research, a treatment or cure for fragile X syndrome (FXS) is not yet available. The reasons behind this are varied, and among them are discrepancies in both research methodologies and research models. For many years, the fmr1 knockout mouse model dominated the field, and was used to draw important conclusions. The establishment of FXS-human cellular models called these conclusions into question, showing conflicting evidence. Discrepancies in FXS research, between mouse and human, might arise from differences inherent to each species, and from the use of different methodologies. This chapter summarizes these discrepancies and evaluates their impact on the current status of clinical trials.

Keywords: Clinical trials; Clinical trials in FXS; FXS cure; FXS pharmacology; FXS treatment; Neurodevelopmental disorders; Treatment of neurodevelopmental disorders.

MeSH terms

  • Animals
  • Biomedical Research*
  • Disease Models, Animal*
  • Embryonic Stem Cells / cytology*
  • Embryonic Stem Cells / metabolism
  • Female
  • Fragile X Mental Retardation Protein / genetics
  • Fragile X Mental Retardation Protein / metabolism*
  • Fragile X Syndrome / genetics
  • Fragile X Syndrome / metabolism
  • Fragile X Syndrome / pathology*
  • Humans
  • Male
  • Mice
  • Pluripotent Stem Cells / cytology*
  • Pluripotent Stem Cells / metabolism


  • Fragile X Mental Retardation Protein