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Rett Syndrome: Reaching for Clinical Trials

Lucas Pozzo-Miller1, Sandipan Pati, Alan K Percy

  • 1Department of Neurobiology, Civitan International Research Center, The University of Alabama at Birmingham, Birmingham, AL, USA.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics
|April 12, 2015
PubMed

Insights

Rett syndrome, a neurodevelopmental disorder caused by MECP2 mutations, is being targeted by new therapies. Preclinical studies in mouse models are informing current clinical trials for individuals with Rett syndrome.

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Rett syndrome (RTT) is a syndromic autism spectrum disorder.
  • It is caused by loss-of-function mutations in the MECP2 gene.
  • Methyl CpG binding protein 2 (MECP2) regulates gene transcription by binding to DNA methylation patterns.

Purpose of the Study:

  • To provide an overview of Rett syndrome.
  • To summarize preclinical studies in MECP2-based mouse models.
  • To describe the current status of clinical trials for RTT.

Main Methods:

  • Review of preclinical studies in MECP2 mouse models.
  • Analysis of current human clinical trials for RTT.

Main Results:

  • Identification of rational molecular targets for RTT drug therapies in preclinical studies.
  • Translation of targeted therapies from preclinical models to human clinical trials.

Conclusions:

  • MECP2-based mouse models are crucial for understanding RTT pathogenesis.
  • Targeted therapies show promise for treating neural dysfunction in RTT.
  • Clinical trials are advancing treatment options for individuals with Rett syndrome.

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