Doctors’ and researchers’ basic approach to treating children with Rett syndrome is undergoing major shifts: Improved medical care is alleviating many of the physical complications, allowing patients to live longer. We are learning that with appropriate therapy, children with Rett can develop, learn and communicate. And 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.
Seeking to reverse symptoms
Rett syndrome used to be considered a dementing disorder, meaning that it was thought that children with the disease lose brain cells. But studies from the last few years indicate that’s not the case. Instead, the connections, or “synapses,” between neurons are not properly matured. The research also suggests that a drug called IGF-1 might be able to help those unstable synapses recover.
We are following up on these exciting discoveries to see whether IGF-1 can help children with Rett syndrome. Khwaja and his team in our Rett Syndrome Program are now conducting a clinical trial on IGF-1. That trial represents the first study of a drug treatment seeking to modify the underlying cause of Rett syndrome.
Please contact us if you would like to learn more about our clinical studies on Rett syndrome.
Making strides through education
In addition to caring for the medical needs of our patients, we place great importance on helping children with Rett syndrome get the kinds of education that will help them learn and communicate, because we have seen that appropriate educational therapies can be enormously helpful to children with Rett syndrome.
Our educational resource coordinator will help your family find and access appropriate educational resources for your child.
A wonderful resource at Boston Children’s is the Augmentative Communication Program. Here, speech-language pathologists work with many of our patients to find creative, effective strategies for communication.
To learn more
To read more about the scientific discoveries related to Rett syndrome, how we are working to translate those findings into clinical care, and how educational therapies can help, you may want to read Making connections, an article from the fall 2008 issue of Vector, a Children’s magazine on research.
You can search for clinical studies throughout Boston Children’s here.
Drug trial: IGF-1
Our Rett Syndrome Program at Children’s has opened a randomized clinical trial of the drug IGF-1 to treat children with Rett syndrome.
For more information about the IGF-1 trial:
Research study: The natural history of Rett syndrome
The Rett Syndrome Program at Boston Children's Hospital is also conducting a natural history study to learn more about Rett syndrome.
For more information about this study: