Multi-System
Also called TSC, tuberous sclerosis complex
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder caused by mutations in TSC1 or TSC2 genes, which encode proteins forming the TSC complex that negatively regulates mTOR signaling. Loss of TSC1/TSC2 function leads to uncontrolled mTOR activation, resulting in widespread development of benign tumors (hamartomas) in multiple organs.
About trials for Tuberous Sclerosis
Clinical trials are evaluating mTOR inhibitors (everolimus) and second-generation mTOR inhibitors for both central and non-central nervous system manifestations. The TSC Alliance provides comprehensive trial information and patient support.
Try Match Me →About 1-2% have de novo mutations; rest inherited from affected parent. Autosomal dominant inheritance with high penetrance. Affects males and females equally, though lung involvement (LAM) predominantly affects women.
Clinical trials are evaluating mTOR inhibitors (everolimus) and second-generation mTOR inhibitors for both central and non-central nervous system manifestations. The TSC Alliance provides comprehensive trial information and patient support. mTOR inhibitors have demonstrated efficacy in reducing seizure frequency, shrinking brain tumors (SEGAs), and managing kidney and lung involvement. Regular multidisciplinary surveillance for complications including seizures, kidney tumors, cardiac involvement, and lung disease is essential. Discuss with your neurologist, nephrologist, and pulmonologist about whether you might benefit from mTOR inhibitor therapy and clinical trial participation.
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