Rare Disease Report

New Guidelines and Trials for Tuberous Sclerosis Complex

OCTOBER 24, 2013

Tuberous sclerosis complex (TSC) is a genetic disorder that causes non-malignant tumors to form in many different organs, primarily in the brain, eyes, heart, kidney, skin and lungs. Symptoms vary but the ones most commonly associated TSC are the central ones including, seizures, developmental delay, intellectual disability and autism. 

At the 2013 DIA NORD Conference on Rare Diseases & Orphan Drugs, we had the privilege of talking to Kari Luther Rosbeck, President and CEO of the Tuberous Sclerosis Alliance.  In this interview, Kari talks about the recent consensus guidelines on the diagnosis, surveillance, and treatment of TSC that were published in the October issue of Pediatric Neurology. These guidelines are available at http://www.tsalliance.org/consensus . Kari also discussed the multicenter clinical research network  that has recently begun two NIH funded clinical trials

At present there is cure for TSC however Afinitor (everolimus) is approved to treat
1)      Patients with subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis who require therapeutic intervention but are not candidates for curative surgical resection
2)      Treatment of adults with renal angiomyolipoma and TSC not requiring immediate surgery.

For more information about the Alliance, visit www.tsalliance.org

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