Tuberous Sclerosis (TSC) Clinical Trials and Treatments

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. Brain involvement occurs in 80-90%, manifesting as cortical tubers (benign focal malformations), subependymal nodules, and subependymal giant cell astrocytomas (SEGAs), which frequently cause seizures and increased intracranial pressure.

The most common symptoms of Tuberous Sclerosis include Seizures from brain tumors (hamartomas), present in 80-90% of patients, Intellectual disability in some patients, Kidney tumors and cystic kidney disease, Skin manifestations including facial angiofibromas, ash-leaf spots, shagreen patches, Cardiac rhabdomyomas, especially in infants, among others. Tuberous Sclerosis affects approximately 1 in 6,000 to 1 in 10,000 people. Symptoms can range from mild to severe and may vary between individuals.

Trial Friend lists all active clinical trials for Tuberous Sclerosis from ClinicalTrials.gov, with eligibility criteria translated into plain English. Patients can filter by trial phase and recruitment status, search by location, and use the Match Me tool to score trials against their profile. mTOR inhibitors like everolimus have already proven they can reduce seizure frequency, shrink brain tumors (SEGAs), and help manage kidney and lung involvement in TSC, which makes them a cornerstone of current treatment. Second-generation mTOR inhibitors now in trials aim to improve on these results with better targeting and fewer side effects.

Yes. As of October 14, 2026, 3 FDA-approved medicines have a current label that names Tuberous Sclerosis: Epidiolex (cannabidiol); Hyftor (sirolimus); and Torpenz (everolimus). Corticosteroids and immune globulins count once each.

Tuberous Sclerosis is caused by variants in the TSC2 and TSC1 genes. About two-thirds of cases are de novo; TSC2 variants are more common in sporadic cases and TSC1 in familial ones.

It is autosomal dominant, so each child of an affected parent has a 1 in 2 chance of inheriting it. The condition affects approximately 1 in 6,000 to 1 in 10,000 people. Genetic testing confirms the diagnosis.

Yes. Genetic testing for Tuberous Sclerosis looks at the TSC2 and TSC1 genes. About two-thirds of cases are de novo; TSC2 variants are more common in sporadic cases and TSC1 in familial ones.

It is autosomal dominant, so each child of an affected parent has a 1 in 2 chance of inheriting it.

A confirmed variant establishes the diagnosis and is often required to enroll in gene-specific trials. The labs currently offering the test are listed in the Genetic Testing section of this page, pulled live from the NIH Genetic Testing Registry. A genetic counselor can help interpret the result and decide which relatives should be tested.

Eligibility for Tuberous Sclerosis clinical trials depends on factors like age, diagnosis, treatment history, and overall health. Each trial sets its own inclusion and exclusion criteria. Trial Friend translates these requirements from medical language into plain English so patients can review them more easily. The Match Me tool can score your profile against active trials to help identify studies that may be a fit.

Participating in a Tuberous Sclerosis clinical trial typically involves scheduled visits, medical tests, and close monitoring by a research team. Depending on the study phase, you may receive an investigational treatment, a placebo, or the current standard of care. Trials may last from a few weeks to several years. Study participation is voluntary, and you can withdraw at any time.