Tuberous Sclerosis News and Research RSS Feed - Tuberous Sclerosis News and Research

Tuberous sclerosis (TSC) is a rare genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. It commonly affects the central nervous system. In addition to the benign tumors that frequently occur in TSC, other common symptoms include seizures, mental retardation, behavior problems, and skin abnormalities. TSC may be present at birth, but signs of the disorder can be subtle and full symptoms may take some time to develop. Three types of brain tumors are associated with TSC: cortical tubers, which generally form on the surface of the brain; subependymal nodules, which form in the walls of the ventricles (the fluid-filled cavities of the brain); and giant-cell astrocytomas, a type of tumor that can block the flow of fluids within the brain.

Sirolimus effective in treating children with Pretzel syndrome, new study reports

With a better understanding of underlying mechanisms that cause a rare neurodevelopmental disorder in the Old Order Mennonite population, referred to as Pretzel syndrome, a new study reports that five children were successfully treated with a drug that modifies the disease process, minimizing seizures and improving receptive language. [More]
ECGs show structural difference in brain connections among children with autism

ECGs show structural difference in brain connections among children with autism

A look at how the brain processes information finds a distinct pattern in children with autism spectrum disorders. Using EEGs to track the brain's electrical cross-talk, researchers from Boston Children's Hospital have found a structural difference in brain connections. Compared with neurotypical children, those with autism have multiple redundant connections between neighboring brain areas at the expense of long-distance links. [More]
New medication could help patients with renal tumours triggered by tuberous sclerosis

New medication could help patients with renal tumours triggered by tuberous sclerosis

In collaboration with the Berlin TSC Centre, Charité - Universitätsmedizin Berlin has developed a new therapy for patients suffering from renal tumours associated with the rare genetic disease tuberous sclerosis (TSC). [More]

Everolimus treatment option for tuberous sclerosis patients

Researchers have shown that the immunosuppressant everolimus provides a potential new treatment option for patients with tuberous sclerosis and associated angiomyolipomas. [More]
New laser surgical technique appears to be safe and effective in treating epilepsy

New laser surgical technique appears to be safe and effective in treating epilepsy

A developing new laser surgical technique for epilepsy appears to be safe and effective and reduces hospital stays to one or two days, according to two research reports presented today during the American Epilepsy Society 66th Annual Meting at the San Diego Convention Center. [More]
Novartis to highlight key data from extensive oncology portfolio at SABCS and ASH meeting

Novartis to highlight key data from extensive oncology portfolio at SABCS and ASH meeting

Novartis will highlight more than 140 presentations on key data from its extensive oncology portfolio at the leading year-end scientific meetings devoted to hematology and breast cancer, demonstrating continued innovation in research and development efforts to advance the care of patients with cancer and rare diseases. [More]

Boston and Cincinnati Children's Hospital to learn more about how autism develops

A network of five leading medical centers, led by Cincinnati Children's Hospital Medical Center and Boston Children's Hospital, has received a five-year, $12.5 million National Institutes of Health (NIH) grant to learn more about how autism develops. [More]
Tuberous sclerosis complex lesions respond well to everolimus in EXIST

Tuberous sclerosis complex lesions respond well to everolimus in EXIST

Results from two phase III trials demonstrate significantly better skin lesion reduction with everolimus than placebo in patients with tuberous sclerosis complex. [More]

Molecular disruptions in granule cells cause epileptic seizures in mice

Scientists have discovered the first direct evidence that a biological mechanism long suspected in epilepsy is capable of triggering brain seizures – opening the door for studies to seek improved treatments or even preventative therapies. [More]

Novartis receives FDA approval for Afinitor Disperz to treat subependymal giant cell astrocytoma

The U.S. Food and Drug Administration today approved Afinitor Disperz (everolimus tablets for oral suspension), a new pediatric dosage form of the anti-cancer drug Afinitor (everolimus) used to treat a rare brain tumor called subependymal giant cell astrocytoma. [More]

Novartis receives FDA approval for Afinitor to treat HER2-negative breast cancer

The U.S. Food and Drug Administration today approved Afinitor (everolimus) for use in combination with Aromasin (exemestane) to treat certain postmenopausal women with advanced hormone-receptor positive, HER2-negative breast cancer. [More]
Five rare mutations in single gene increase chances of boys developing ASD

Five rare mutations in single gene increase chances of boys developing ASD

Researchers at Emory University School of Medicine have identified five rare mutations in a single gene that appear to increase the chances that a boy will develop an autism spectrum disorder (ASD). [More]

Deleting a single gene results in autism-like behavior

Deleting a single gene in the cerebellum of mice can cause key autistic-like symptoms, researchers have found. They also discovered that rapamycin, a commonly used immunosuppressant drug, prevented these symptoms. [More]

Study investigates EEGs as potential diagnostic tool for autism

Widely available EEG testing can distinguish children with autism from neurotypical children as early as age 2, finds a study from Boston Children's Hospital. The study is the largest, most rigorous study to date to investigate EEGs as a potential diagnostic tool for autism, and offers hope for an earlier, more definitive test. [More]
Updated AAN guideline outlines treatments for infantile spasms

Updated AAN guideline outlines treatments for infantile spasms

The American Academy of Neurology has issued an updated guideline outlining the best treatments for infantile spasms, a rare type of seizure that can occur in infants and young children. [More]
UCLA research projects aim to improve lives of children with serious illnesses

UCLA research projects aim to improve lives of children with serious illnesses

New hope for deadly pediatric brain tumors; opening the door to improved diagnosis and treatment of epilepsy in children; and advanced genetic testing to better understand the causes of autism and cancer in kids. These research projects are currently underway at Mattel Children's Hospital UCLA under the umbrella of the UCLA Children's Discovery and Innovation Institute (CDI), and aim to dramatically improve the lives of children with serious illnesses. [More]

Rapamycin could help prevent autism in newborns with seizures

Early-life seizures are known to be associated with autism, and studies indicate that about 40 percent of patients with autism also have epilepsy. A study from Boston Children's Hospital finds a reason for the link, and suggests that an existing drug, already shown to be safe in children, could help prevent autism from developing in newborns who have seizures. [More]
FDA approves Novartis’ Afinitor for treatment of renal angiomyolipomas and TSC

FDA approves Novartis’ Afinitor for treatment of renal angiomyolipomas and TSC

Novartis Pharmaceuticals Corporation announced today that the US Food and Drug Administration (FDA) approved Afinitor (everolimus) tablets for the treatment of adult patients with kidney tumors known as renal angiomyolipomas and tuberous sclerosis complex (TSC), who do not require immediate surgery. [More]
Novartis receives FDA approval for Afinitor to treat renal angiomyolipomas caused by TSC

Novartis receives FDA approval for Afinitor to treat renal angiomyolipomas caused by TSC

The U.S. Food and Drug Administration today approved Afinitor (everolimus), the first drug approved specifically to treat non-cancerous kidney tumors (renal angiomyolipomas) not requiring immediate surgery in patients with tuberous sclerosis complex. [More]
Epilepsy community welcomes IOM's new landmark study report

Epilepsy community welcomes IOM's new landmark study report

Responding to today's release of the Institute of Medicine 's (IOM) new report on the public health dimensions of the epilepsies, a cooperative group of professional and consumer organizations with special interest in epilepsy has issued the following joint statement. [More]