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There are many ways you can help children and their families get the care they need.
If your doctor suspects that your child has tuberous sclerosis complex (also called TS or TSC), you probably have a lot of questions about what to expect and how your child’s condition will be cared for. Our Multi-Disciplinary Tuberous Sclerosis Program at Children’s Hospital Boston combines the expertise of physicians who specialize in treating the various complications that children can experience from having tuberous sclerosis.
What we do
Our program is led by child neurologist Mustafa Sahin, MD, PhD, and includes Children's pediatric specialists in Epilepsy, Neurosurgery, Psychiatry, Cardiology, Nephrology, Ophthalmology, Dermatology and Genetics. Each member of our team has special expertise in treating children with tuberous sclerosis. Your child can see all of us at the same location, and we work closely with one another to anticipate our patients’ symptoms and manage them diligently.
We also work closely with you, knowing that your family is a central part of your child’s care team. A nurse coordinator, licensed genetic counselor and educational consultant provide essential support to our patients and their families. And through our Family to Family Program, you can talk with other parents whose children have tuberous sclerosis.
Looking to the future
In addition to providing expert care for children with tuberous sclerosis, we are searching for ways to improve treatment. We conduct clinical trials of new drugs, studies of the complications that children experience, and genetic studies to find DNA abnormalities that may contribute to the disease. In addition, Sahin leads a laboratory in which he and his colleagues conduct basic research to better understand the disease and to find new strategies for treatment.
Boston Children's Hospital to lead NIH-funded Rare Diseases Consortium studying autism and intellectual disability
Under a five-year, $6 million grant announced today by the National Institutes of Health, Boston Children’s Hospital will lead 10 medical centers in studying three rare genetic syndromes that often cause autism spectrum disorder (ASD) and intellectual disability (ID). The study’s ultimate goal is to launch clinical trials of new treatments and develop “biomarkers” that can be used to monitor treatment effectiveness—for the three rare syndromes and possibly for broader groups of ASD/ID patients.
Through the grant, from NIH’s Rare Diseases Clinical Research Network (RDCRN), the 10 centers have formed the Developmental Synaptopathies Consortium (U54 NS092090). In addition to the NIH and Boston Children’s, the Consortium includes Cincinnati Children’s Hospital Medical Center, Cleveland Clinic, Icahn School of Medicine at Mount Sinai, Rush University Medical Center, Stanford University, University of Alabama at Birmingham, University of California at Los Angeles and The University of Texas Health Science Center at Houston. (See below for a list of leading investigators.) Enrollment is projected to begin in the spring of 2015.
While both ASD and ID have a variety of known genetic causes, some of them have been shown to impair similar cellular pathways in the brain. The three conditions to be studied by the Consortium—tuberous sclerosis complex (caused by mutations in the TSC1 and TSC2 genes), Phelan-McDermid syndrome (caused by SHANK3 mutations) and PTEN Hamartoma Tumor Syndrome (caused by PTEN mutations)—seem to affect certain shared pathways influencing the development of brain connections, or synapses.
“To date, genetic studies indicate that there are about 500 to 1,000 genes that make people susceptible to ASD and ID,” says Mustafa Sahin, MD, PhD, a pediatric neurologist at Boston Children’s Hospital and the Consortium Director. “While it’s very unlikely that a single therapy could treat disorders with so many distinct causes, we may be able to find certain groups of patients who share defects in similar biochemical pathways and may respond to treatment with the same agents.”
For example, the finding that tuberous sclerosis complex results from disruption of the mTOR pathway have led Sahin and colleagues to test whether mTOR inhibitors can improve patients’ neurocognition. The Consortium investigators now plan to begin testing mTOR inhibitors in PTEN patients, since mTOR has also been implicated in their disease.
Together, the sites will seek to enroll 100 patients with tuberous sclerosis, 90 with Phelan-McDermid syndrome and 140 with PTEN mutations, ages 3 to 21, and follow them for three to five years with physical examinations, neuropsychological testing and advanced brain imaging. Advocacy groups for each condition, including the Tuberous Sclerosis Alliance, Phelan McDermid Syndrome Foundation, PTEN World, PTEN Life and The Beatrice and Samuel A. Seaver Foundation, helped design the studies and are providing additional funding. Each group will notify its patient community when enrollment opens.
“Through comparative analysis of pathology caused by multiple genes, we may find that treatments developed for one disorder might be applicable to others,” says Sahin, who also founded and directs the Multidisciplinary Tuberous Sclerosis Program at Boston Children’s. “A deeper understanding of this shared biology may also be a gateway to understanding the broader mechanisms of ASD and ID.”
The RDCRN is an initiative of NIH’s Office of Rare Disease Research (ORDR) and National Center for Advancing Translational Sciences. The Developmental Synaptopathies Consortium is funded through collaboration between NCATS, NIMH, NINDS and NICHD. Its lead investigators are:
Boston Children’s Sahin and Cincinnati Children’s Krueger receive grant for tuberous sclerosis complex study
We’re pleased to announce that Boston Children’s Hospital neurologist Mustafa Sahin, MD, PhD, and Darcy Krueger, MD, PhD, of Cincinnati Children’s Hospital Medical Center, have received part of a $100 million grant from the National Institutes of Health as part of the Autism Centers of Excellence. The grant supports their research on tuberous sclerosis complex (TSC). This rare genetic disease causes children to develop benign tumors in their brain and other vital organs and increases their risk of developing autism. Currently, there is no cure for TSC, although there is treatment for the symptoms. Through this project, a consortium of TSC clinics at five pediatric hospitals will recruit infants diagnosed with TSC to track brain development and gain insights into how autism develops.
For additional information about our research programs, please contact our study coordinators:
We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”