Tuberous Sclerosis (TSC) Research and Clinical Trials

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Research & Innovation

In addition to providing comprehensive care for children and their families today, our tuberous sclerosis experts at Children’s Hospital Boston are dedicated to advancing what’s possible for children with TSC in the future. Our physicians and researchers are leading a number of studies and trials aimed at understanding the root causes of the disease and finding treatments.

One of the most unique features of Children’s TSC research is that in addition to treating our patients and conducting clinical studies, we’re also studying the disease in the laboratory. We conduct both kinds of research so that we can get the most complete understanding of TSC possible, and so discoveries from the laboratory can move quickly into the clinic. Experts from many different fields—neurologists, psychologists, neuroradiologists and others—work closely with each other on these efforts so that together, we can tackle TSC.

Looking for early signs of autism spectrum disorders in children with TSC

Many children with TSC also develop an autism spectrum disorder (ASD). For children with ASDs, catching the symptoms early and starting behavioral therapies right away can make a big difference. Many researchers believe that intervening even sooner might make a greater impact, but in order to do that, we first have to be able to see the symptoms early on.

In an effort to be able to identify high-risk children as early as possible, the laboratory of Charles Nelson, PhD, research director of Children’s Developmental Medicine Center, is looking for subtle signs that might emerge in early infancy. He and his team are studying babies’ brain activity and behaviors like where their eyes move when they look at a face. Their latest data suggest that some of these measures can identify high-risk infants as young as 3 months old. 

Another strategy for finding early indicators of ASDs is to look at the brain. Could there be some telltale marker of autism risk on children’s brain imaging scans? Simon Warfield, PhD, research director of Radiology, is investigating that possibility using an advanced form of magnetic resonance imaging (MRI) called diffusion tensor imaging (DTI).

Clinical trials of potential new medications for TSC

Therapies are available to manage many of the possible complications of TSC. But the great hope of TSC physicians and researchers is that an effective treatment will be found for the disease itself. Thanks to recent scientific progress in understanding in-depth how TSC1 and TSC2 mutations cause problems in cells, researchers now have some promising leads on how that process might be reversed by drugs—and Children’s stands at the forefront of these efforts.

Mustafa Sahin, MD, PhD, and his colleagues in Children’s Multi-Disciplinary Tuberous Sclerosis Program are studying a drug, rapamycin, that they hope will reverse symptoms of TSC. Rapamycin is an immunosuppressant that’s already commercially available; preliminary trials using it in TSC patients are encouraging, but a lot still needs to be learned. The Children’s team is looking to see whether the drug is able to reverse children’s TSC complications such as brain tumors. They’re also working to find out whether it can help with neurocognitive problems, such as autistic symptoms, seizures and sleep disorders

So far, there’s no medication to treat the symptoms of autism spectrum disorders (ASDs). But many researchers hope that the studies going on at Children’s may start to change that. Read more about these exciting developments in Can drugs improve cognitive deficits in developmental disorders?


We know that most cases of tuberous sclerosis are caused by mutations in two genes, TSC1 and TSC2. But there’s still a lot that we don’t understand about what can cause TSC—and about what determines how the disease is going to impact your child. Sahin and his colleagues are trying to fill in those gaps by studying the DNA of children with TSC and their families.

In particular, the researchers want to know:

  • In about 80 percent of people with TSC, genetic testing detects a mutation in TSC1 or TSC2. But what about the other 20 percent? Is their disease caused by a different mutation?
  • Why is it that different people with TSC can have totally different symptoms—even if they have the same DNA mutation?

If we can answer those questions, then genetic testing could provide information for more families. What’s more, if it turns out that additional genes are involved in TSC, that could give researchers entirely new information about the way the disease works, and how it could be treated.

Basic research connections

Mustafa Sahin, MD, PhD runs a research laboratory in which he and his colleagues study mice that have a TSC -like syndrome, so that they can understand how the disease comes about and test potential treatments. Those studies give them a wealth of important information that helps them understand how TSC works in children and identify the most promising avenues for treatment.

Children’s also has active laboratory research programs dedicated to advancing care for many of the possible complications of TSC, such as epilepsy and autism spectrum disorders. Learn more on the Epilepsy and Autism spectrum disorders pages.

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- Sandra L. Fenwick, President and CEO

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