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Research & Innovation

Rett syndrome was once considered a neurodegenerative disorder, meaning that as children with the disorder progressed, they lost function and structure of their neurons. However, that belief has been proven incorrect. In reality, the connections between neurons (called “synapses”) are not properly matured, and this is what causes problems with brain development and function.

In recent years, the basic approach to treating children with Rett syndrome has undergone major shifts. We are learning that with appropriate therapy, children with Rett syndrome can develop, learn, and communicate. Recent discoveries offer hope that medical treatments might one day reverse the symptoms of Rett syndrome.

In our Rett Syndrome Program at Boston Children’s Hospital, we push the boundaries of care in order to help our patients achieve their full potential.

Actively recruiting studies

Boston Children’s Hospital continues to collaborate with investigators and pharmaceutical sponsors on studies assessing the safety and efficacy of investigational medications in children with Rett syndrome. We are also conducting studies measuring the utility of wearable devices; designed to capture Rett symptoms and breathing abnormalities, this technology along with EEG and eye-tracking studies lay the foundation for potential biomarkers. Future clinical trials can use these concrete measures as a benchmark, or indicator of an intervention’s true efficacy, in improving the lives of people with Rett syndrome.

Sensory Processing & Arousal Biomarkers in Rett Syndrome

Females and males aged 12 months to 25 years with classic, atypical, or probable Rett syndrome who are eligible to participate in this study will have an EEG (electroencephalography, to measure electrical activity in the brain) performed, with eye-tracking to measure the pupil size and ECG (electrocardiogram, to measure heart rhythm) to understand how children with Rett syndrome process their environment.

The Emerald Study (Pilot Device Study of Emerald and MC10 BioStamp nPoint Biosensors)

This four-week pilot study is assessing the ability of touchless and wearable biosensor devices to monitor sleep, movement, and breathing patterns in girls with classic or atypical Rett syndrome.

Ongoing studies closed to enrollment

LILAC Studies (Phase 3 Oral Trofinetide Trial Open Label Extension)

Girls and women with classic Rett syndrome who completed the LAVENDER Study are eligible to roll into a 40-week Open Label Extension Trial to assess the safety and tolerability of long-term treatment in girls and women with Rett syndrome. Participants who complete the 40-week Open-Label LILAC study are eligible to continue receiving oral Trofinetide for approximately 32 months.

We also participate in the Rett Syndrome Research Trust’s Clinical Trial Consortium and International Rett Syndrome Foundation’s Clinical Research Centers of Excellence.

Completed studies

  • Phase 1 IGF-1 Trial – Boston Children’s Hospital investigator-led study
  • Phase 2 IGF-1 Trial – Boston Children’s Hospital investigator-led study
  • Phase 2 Trofinetide (NNZ-2566) Trial
  • LAVENDER Study (Phase 3 Oral Trofinetide Trial Double-blind Phase)
  • The Ketamine Study (Phase 2 Ketamine Trial)
  • Natural History Study (5201)
  • Natural History Study (5211 & 5212)
  • Biobanking of Rett Syndrome and Related disorders (extension of natural history studies)
  • Neurophysiological Correlates (extension of natural history studies)
  • Neural Correlates of Rett Syndrome and Related Disorders
  • Cortical Biomarker Study
  • Characterization of Movement Disorders in Rett Syndrome
  • MicroRNA study
  • Phase 2 ANAVEX2-73 oral solution Trial and Open Label Extension

Research opportunities

For more information about our research opportunities please contact the Rett Syndrome Research Program at 617-355-5230 or rettresearch@childrens.harvard.edu.