Clinical Trials Logo

TSC Related Autism clinical trials

View clinical trials related to TSC Related Autism.

Filter by:
  • Recruiting  
  • Page 1

NCT ID: NCT01730209 Recruiting - Clinical trials for Tuberous Sclerosis Complex

Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex

RAPIT
Start date: November 2012
Phase: Phase 2/Phase 3
Study type: Interventional

Tuberous sclerosis complex (TSC) is a genetic disease that leads to mental retardation in over 50% of patients, and to learning problems, behavioral problems, autism and epilepsy in up to 90% of patients. The underlying deficit of TSC, loss of inhibition of the mammalian target of rapamycin (mTOR) protein due to dysfunction of the tuberin/hamartin protein complex, can be rescued by everolimus. Everolimus has been registered as treatment for renal cell carcinoma and giant cell astrocytoma (SEGA). Evidence in human and animal studies suggests that mTOR inhibitors improve learning and development in patients with TSC.