Tuberous Sclerosis: Study Shows Drug Can Shrink Tumors and Save Kidneys

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Misty Barnhart is a patient of the Tuberous Sclerosis Clinic at Cincinnati Children's. She was diagnosed with tuberous sclerosis complex at 14 and has been battling her illness ever since. www.cincinnatichildrens.org/se...
Several years ago, Misty had one of her kidneys removed after a procedure to resect masses within the kidney didn't leave much functioning organ. Later, she was told she would need the same surgery to remove tumors from her one remaining kidney. "At that point, I was just hysterical," she said. Before she said yes to a surgery that could leave her without any kidney function, Misty researched other options. In that research, she found Dr. John Bissler and Cincinnati Children's.
Misty is one of about a million people worldwide living with tuberous sclerosis complex (TSC). It's a genetic disease that causes tumors to grow on vital organs like the heart, lungs, kidneys and brain. The tumors are non-malignant, but can interfere with normal organ function. With tuberous sclerosis, kidneys are often removed unnecessarily. They look bad but they work.
In TSC, it is common for tumors to grow on vital organs. As many as 80 percent of TSC patients have these tumors, called angiomyolipomas. The new Cincinnati Children's study shows that everolimus, marketed by Novartis under the tradename Afinitor®, successfully shrinks angiomyolipomas, or AMLs, in patients with TS.
The Food and Drug Administration in April approved everolimus to treat non-cancerous kidney tumors (renal angiomyolipomas) not requiring immediate surgery in patients with TSC, based on the research led by the Cincinnati Children's team. TSC affects approximately 40,000 children and adults in the United States, with 70 to 80 percent developing kidney problems. TSC can cause multiple tumors in both kidneys that compress normal tissue as they grow, leading to kidney failure and bleeding due to uncontrolled blood vessel growth. One of five who bleed wind up in the emergency department in shock.
Some TSC patients at Cincinnati Children's have been on the drug for several years, and tumor reduction has not subsided. Novartis is sponsoring a four-year follow-up study to track longer-term effects.
Cincinnati Children's has what is believed to be the largest TSC clinic in the world, treating more than 839 children and adults. Cincinnati Children's also is a major TSC research center. David Neal Franz, MD, a neurologist who cares for TS patients, was senior author of a 2010 study published in The New England Journal of Medicine demonstrating the ability of everolimus to shrink SEGAs, a kind of brain tumor common in patients with TSC.