The Way Forward for Mechanism-Based Therapeutics in Genetically Defined Neurodevelopmental Disorders

Clin Pharmacol Ther. 2018 Oct;104(4):603-606. doi: 10.1002/cpt.1181. Epub 2018 Aug 12.

Abstract

Rare genetically defined neurodevelopmental disorders with increased risk of autism have recently become an entry point for autism-related drug discovery. Through exploration of downstream effects of the pathological mutations, specific mechanistic pathways have been identified as dysregulated. The identification of shared mechanisms across forms of autism opens the door for the development of novel "mechanism-based therapeutics." However, confidence in the therapeutic mechanism does not diminish the need for well-designed clinical trials.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Adolescent
  • Adolescent Behavior / drug effects*
  • Adolescent Development / drug effects*
  • Age Factors
  • Brain / drug effects*
  • Brain / physiopathology
  • Central Nervous System Agents / adverse effects
  • Central Nervous System Agents / therapeutic use*
  • Child
  • Child Behavior / drug effects*
  • Child Development / drug effects*
  • Fragile X Syndrome / drug therapy
  • Fragile X Syndrome / genetics
  • Fragile X Syndrome / physiopathology
  • Fragile X Syndrome / psychology
  • Genetic Predisposition to Disease
  • Humans
  • Mutation*
  • Neurodevelopmental Disorders / drug therapy*
  • Neurodevelopmental Disorders / genetics*
  • Neurodevelopmental Disorders / physiopathology
  • Neurodevelopmental Disorders / psychology
  • Phenotype
  • Rett Syndrome / drug therapy
  • Rett Syndrome / genetics
  • Rett Syndrome / physiopathology
  • Rett Syndrome / psychology
  • Risk Factors
  • Tuberous Sclerosis / drug therapy
  • Tuberous Sclerosis / genetics
  • Tuberous Sclerosis / physiopathology
  • Tuberous Sclerosis / psychology

Substances

  • Central Nervous System Agents