Rett Syndrome Program | Research & Innovation

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 can develop, learn and communicate. Recent discoveries are offering hope that medical treatments might one day reverse the symptoms of Rett.

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.

Research into the natural history of Rett

Because better medical care is allowing many people with Rett syndrome to live longer, there is a lot that needs to be learned about how the disease progresses, what the quality of life is for patients and what we can do to further improve care.

Boston Children’s is one of four institutions who work together to study the natural history of Rett syndrome through the Rare Diseases Clinical Research Network. Our physicians travel around the United States to evaluate children and adults as part of this study. The study is funded by the National Institutes of Health, including its Office of Rare Diseases Research.

IGF-1 trials

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 since 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.

Preliminary studies suggested a drug called IGF-1 might be able to help these synapses recover. At Boston Children’s Hospital, the Rett Syndrome Research team conducted a Phase 1 IGF-1 trial to look at the safety of the medication in children with Rett syndrome. We also completed a Phase 2 IGF-1 trial to further look at the safety and to explore potential improvements in symptoms (efficacy). Both the Phase 1 and Phase 2 IGF-1 trials suggested the medication could safely be given to children with Rett syndrome, however there was no significant improvement shown. The Phase 1 IGF-1 trial paper was published in 2013. The Phase 2 IGF-1 trial paper is pending publication.

In addition to IGF-1, there are several other medications in various stages of pre-clinical and clinical trial testing. It is a very exciting time for research in Rett syndrome.

Current studies

  • Natural History Study (5211) – The purpose of this study is to gather detailed historical and physical examination data on a large number of individuals with Rett syndrome and related disorders (MECP2 duplication, MECP2-related, FOXG1, and CDKL5 disorders.
  • Neurophysiological Correlates (5212)
  • MicroRNA study
  • Biobanking study
  • Biorepository study
  • Neural Correlates of Rett Syndrome and Related Disorders

The purpose of this research study is to gain a greater understanding of how the brains of children with Rett syndrome and related disorders process sensory information in comparison to children who are typically developing. 

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

Past studies

  • Phase 1 IGF-1 Trial
  • Phase 2 IGF-1 Trial
  • Phase 2 Trofinetide (NNZ-2566) Trial
  • Natural History Study (5201)
  • Cortical Biomarker Study
  • Characterization of Movement Disorders in Rett Syndrome

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.