Rett Syndrome: Crossing the threshold to clinical translation

David M. Katz*, Adrian Bird, Monica Coenraads, Steven J. Gray, Debashish U. Menon, Benjamin D. Philpot, Daniel C. Tarquinio

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

Lying at the intersection between neurobiology and epigenetics, Rett syndrome (RTT) has garnered intense interest in recent years, not only from a broad range of academic scientists, but also from the pharmaceutical and biotechnology industries. In addition to the critical need for treatments for this devastating disorder, optimism for developing RTT treatments derives from a unique convergence of factors, including a known monogenic cause, reversibility of symptoms in preclinical models, a strong clinical research infrastructure highlighted by an NIH-funded natural history study and well-established clinics with significant patient populations. Here, we review recent advances in understanding the biology of RTT, particularly promising preclinical findings, lessons from past clinical trials, and critical elements of trial design for rare disorders.

Original languageEnglish
Pages (from-to)100-113
Number of pages14
JournalTrends in Neurosciences
Issue number2
Publication statusPublished - 1 Feb 2016

Keywords / Materials (for Non-textual outputs)

  • Clinical trials
  • Epigenetics
  • Gene therapy
  • MECP2
  • Neurodevelopmental disorders
  • Preclinical models


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