RecruitingNCT00001465
Neurological
Tuberous Sclerosis Complex
Also known as TSC, tuberous sclerosis, Bourneville disease, TSC1/TSC2 haploinsufficiency
Tuberous sclerosis complex (TSC) is a multi-system genetic disorder caused by mutations in TSC1 or TSC2, encoding hamartin and tuberin respectively, which together regulate the mTOR signaling pathway. Loss of function leads to benign tumors
ORPHA:805 ↗Gene TSC1Gene TSC2Prevalence 1-5 per 10,000 (Orphanet)Onset Neonatal, Infantile, ChildhoodAutosomal dominant genetic (de novo in ~2/3)
23
studies recruiting now
as of 7 Sept 2026
119
studies registered in total
as of 7 Sept 2026
3
countries with a recruiting site
as of 7 Sept 2026
17 Dec 2025
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT00001975
Study of Skin Tumors in Tuberous Sclerosis
RecruitingPhase 1 / Phase 2NCT07287202
Safety, Tolerability, and Pharmacokinetics of SVG103 (Paxalisib) in Focal Cortical Dysplasia Type II (FCD-II), Tuberous Sclerosis Complex (TSC) or Hemimegalencephaly (HME)
RecruitingPhase 2NCT06081348
Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
RecruitingNCT00001532
Role of Genetic Factors in the Development of Lung Disease
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 23 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Tuberous Sclerosis Complex
Tuberous sclerosis complex (TSC) is a multi-system genetic disorder caused by mutations in TSC1 or TSC2, encoding hamartin and tuberin respectively, which together regulate the mTOR signaling pathway. Loss of function leads to benign tumors (hamartomas) in multiple organs including the brain (cortical tubers, subependymal nodules, SEGA), kidneys (angiomyolipomata), lungs (LAM), and skin. Neurological manifestations include epilepsy, intellectual disability, autism spectrum disorder, and ADHD.
Common clinical features
Cortical tubers causing epilepsySubependymal giant cell astrocytoma (SEGA)Renal angiomyolipomataSkin manifestations (facial angiofibromas, ash-leaf spots)Intellectual disabilityAutism spectrum disorderPulmonary LAM
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
2 approved treatments and 4 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Approved: Everolimus (Afinitor)Approved: Sirolimus (Fyarro)
Phase 3Ganaxolone (Ztalmy)
Phase 2/3Vigabatrin (Kigabeq)
Phase 2Basimglurant
Phase 2Soticlestat
Before you apply
Things trial teams commonly ask about for Tuberous Sclerosis Complex. Not eligibility rules; those are set by each study.
- TSC1 versus TSC2 mutation affects phenotype severity — TSC2 mutations are generally more severe; genotype must be documented
- mTOR inhibitors (everolimus, sirolimus) are approved for SEGA, renal AML, and pulmonary LAM — prior mTOR inhibitor use and current blood levels must be documented
- Seizure frequency, type, and current antiseizure medication regimen are key eligibility determinants for epilepsy trials
- TSC-associated neuropsychiatric disorders (TAND) assessment scores are eligibility and outcome measures for behavioral trials
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).