Help for patients with tuberous sclerosis

The results of the study appear in the medical journal The Lancet.

Tuberous sclerosis is a rare genetic disease that can affect many organs, including the kidneys, the brain, the skin, the lungs and the heart. The disease is characterised by a malfunctioning regulation of the so-called mTOR pathway. mTOR is an integral component of a protein complex that integrates different cell pathways, regulates the production of proteins and thus controls cell growth and the cell cycle. The malfunctioning regulation of the mTOR pathway leads to excessive cell growth, which, in turn, results in the formation of benign tumours on the skin and in the body. The constant growth, however, may cause severe haemorrhages and the suppression of other organs. In addition, renal tumours may trigger serious renal problems.

"This worldwide clinical trial for regulatory approval has for the first time shown that the use of the drug Everolimus, a so-called mTOR inhibitor, can substantially reduce the tumour volume in patients with renal tumours triggered by the genetic disease tuberous sclerosis," states Prof. Klemens Budde, Senior Physician in the Medical Department, Division of Nephrology at Campus Charité Mitte and responsible author of the study. Within half a year, the tumour volume in nearly half the patients affected had been reduced by more than 50 percent. In addition, the drug had beneficial effects on the skin symptoms of a quarter of the patients.

This new medication could therefore offer an effective alternative to the operative removal of the kidneys in the long term, the Lancet editorial emphasises. The development of an approved drug therapy for a rare genetic disease is an outstanding example of years of basic research paying off with the emergence of new targeted therapy approaches. As in many diseases the mTOR pathway is defective, mTOR inhibitors can be used, for instance, with organ transplant patients, malignant renal tumours, rare neuroendocrine tumours and even with breast cancer.

"A worldwide study for a rare disease such as TSC would scarcely have been possible without the excellent collaboration with the researchers in the interdisciplinary Berlin Tuberous Sclerosis Centre," stresses Dr. Christoph Herztberg, Head of the TSC Centre Berlin at the Neukölln Vivantes Clinic.