Featured Research

from universities, journals, and other organizations

Help for patients with tuberous sclerosis

Date:
February 12, 2013
Source:
Charité - Universitätsmedizin Berlin
Summary:
Scientists have developed a new therapy for patients suffering from renal tumors associated with the rare genetic disease tuberous sclerosis (TSC). The researchers have succeeded in markedly reducing the tumor volume in TSC patients by using the drug Everolimus.

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). The researchers have succeeded in markedly reducing the tumour volume in TSC patients by using the drug Everolimus.

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.


Story Source:

The above story is based on materials provided by Charité - Universitätsmedizin Berlin. Note: Materials may be edited for content and length.


Journal Reference:

  1. John J Bissler, J Christopher Kingswood, Elżbieta Radzikowska, Bernard A Zonnenberg, Michael Frost, Elena Belousova, Matthias Sauter, Norio Nonomura, Susanne Brakemeier, Petrus J de Vries, Vicky H Whittemore, David Chen, Tarek Sahmoud, Gaurav Shah, Jeremie Lincy, David Lebwohl, Klemens Budde. Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial. The Lancet, 2013; DOI: 10.1016/S0140-6736(12)61767-X

Cite This Page:

Charité - Universitätsmedizin Berlin. "Help for patients with tuberous sclerosis." ScienceDaily. ScienceDaily, 12 February 2013. <www.sciencedaily.com/releases/2013/02/130212100426.htm>.
Charité - Universitätsmedizin Berlin. (2013, February 12). Help for patients with tuberous sclerosis. ScienceDaily. Retrieved July 29, 2014 from www.sciencedaily.com/releases/2013/02/130212100426.htm
Charité - Universitätsmedizin Berlin. "Help for patients with tuberous sclerosis." ScienceDaily. www.sciencedaily.com/releases/2013/02/130212100426.htm (accessed July 29, 2014).

Share This




More Health & Medicine News

Tuesday, July 29, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Deadly Ebola Virus Threatens West Africa

Deadly Ebola Virus Threatens West Africa

AP (July 28, 2014) — West African nations and international health organizations are working to contain the largest Ebola outbreak in history. It's one of the deadliest diseases known to man, but the CDC says it's unlikely to spread in the U.S. (July 28) Video provided by AP
Powered by NewsLook.com
$15B Deal on Vets' Health Care Reached

$15B Deal on Vets' Health Care Reached

AP (July 28, 2014) — A bipartisan deal to improve veterans health care would authorize at least $15 billion in emergency spending to fix a veterans program scandalized by long patient wait times and falsified records. (July 28) Video provided by AP
Powered by NewsLook.com
Two Americans Contract Ebola in Liberia

Two Americans Contract Ebola in Liberia

Reuters - US Online Video (July 28, 2014) — Two American aid workers in Liberia test positive for Ebola while working to combat the deadliest outbreak of the virus ever. Linda So reports. Video provided by Reuters
Powered by NewsLook.com
Traditional African Dishes Teach Healthy Eating

Traditional African Dishes Teach Healthy Eating

AP (July 28, 2014) — Classes are being offered nationwide to encourage African Americans to learn about cooking fresh foods based on traditional African cuisine. The program is trying to combat obesity, heart disease and other ailments often linked to diet. (July 28) Video provided by AP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
 
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:  

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:  

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile iPhone Android Web
Follow Facebook Twitter Google+
Subscribe RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins