Rett Syndrome

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Rett Syndrome

 Eligibility for Study Participation:

  • Girls 2 to 12 years that are typically developing, with no history of pre or postnatal difficulties, and who have normal, uncorrected, vision

Rett Syndrome (RTT) is a genetic disorder caused by a single mutation on the X-chromosome. RTT is characterized by toddlerhood regression of motor and language milestones, as well as onset of stereotypies, breathing abnormalities and gastrointestinal complications.

Currently, methods for measuring neural function in girls with Rett Syndrome do not exist, but they are urgently needed so that researchers can learn more about how to treat this neurodevelopmental disorder. One potential pathway toward assessing neural function is through the visual system. We know a great deal about how this system functions in the brain, and can therefore draw conclusions about other neural networks based on how the visual system performs. This has been shown in previous work done in mouse models of RTT, which used assessments of the visual system in order gain information about functional levels in related neural networks. Researchers have also identified a drug that helps RTT mice develop with normal brain functioning. This drug is now being tested in a human clinical trial at Boston Children’s Hospital, and our goal is to build on the mouse model research in order to determine the effects of the drug in human use.  We will be using EEG to measure neural function in response to visual stimuli, both before and after treatment. In addition to assessing the effectiveness of this new drug, our goal is to identify a reliable biological marker that can be used for earlier identification and improved assessment of clinical interventions. 

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