Disease · MONDO_0001734
tuberous sclerosis
6 sourcesdiseases-2026-09-18-0.1.0
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ConductScience Library. tuberous sclerosis. Diseases, record MONDO_0001734. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0001734
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Disease
Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.
- Other names
- Bourneville disease, Bourneville syndrome, Bourneville's disease, Bourneville's syndrome, TSC, epiloia, tuberous sclerosis complex, tuberous sclerosis syndrome
- Open Targets
- Highest stage of its drugs
- Approval, for 2 of its 12 drugs, from DailyMed, EMA Human Drugs and PMDA
- Open Targets
Drugs12
The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.
| Drug | ChEMBL ID | Type | Open Targets' stage | Stage reported by | Reports | Of them trials | Trials shown here | Source |
|---|---|---|---|---|---|---|---|---|
| EVEROLIMUS | CHEMBL1908360 | Small molecule | Approval | DailyMed, EMA Human Drugs and PMDA | 13 | 10 | 10 | Drugs and targets |
| SIROLIMUS | CHEMBL413 | Small molecule | Approval | EMA Human Drugs and PMDA | 11 | 9 | 9 | Drugs and targets |
| CANNABIDIOL | CHEMBL190461 | Small molecule | Phase 3 | ClinicalTrials.gov | 3 | 3 | 3 | Drugs and targets |
| CALCITRIOL | CHEMBL846 | Small molecule | Phase 3 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| NABIXIMOLS | CHEMBL3833333 | Small molecule | Phase 3 | ClinicalTrials.gov | 1 | 1 | 0 | Drugs and targets |
| ASPIRIN | CHEMBL25 | Small molecule | Phase 2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| BASIMGLURANT | CHEMBL3301626 | Small molecule | Phase 2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| PROPRANOLOL | CHEMBL27 | Small molecule | Phase 2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| SOTICLESTAT | CHEMBL4298172 | Small molecule | Phase 2 | TTD | 1 | 0 | 0 | Drugs and targets |
| PAXALISIB | CHEMBL3813842 | Small molecule | Phase 1/2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
1 to 10 of 12
See all 12 drugsTargets20
The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.
| Target | Protein | Its drugs that act on it | Mechanisms | Highest stage of those drugs | Gene in Genes | Source |
|---|---|---|---|---|---|---|
| FKBP1A | Peptidyl-prolyl cis-trans isomerase FKBP1A | 2 | FK506-binding protein 1A inhibitor | Approval | https://conductscience.org/library/genes/2280 | Drugs and targets |
| ADRB1 | Beta-1 adrenergic receptor | 1 | Beta-1 adrenergic receptor antagonist | Phase 2 | https://conductscience.org/library/genes/153 | Drugs and targets |
| ADRB2 | Beta-2 adrenergic receptor | 1 | Beta-2 adrenergic receptor antagonist | Phase 2 | https://conductscience.org/library/genes/154 | Drugs and targets |
| CNR1 | Cannabinoid receptor 1 | 1 | Cannabinoid CB1 receptor negative allosteric modulator | Phase 3 | https://conductscience.org/library/genes/1268 | Drugs and targets |
| CYP46A1 | Cholesterol 24-hydroxylase | 1 | Cholesterol 24-hydroxylase inhibitor | Phase 2 | https://conductscience.org/library/genes/10858 | Drugs and targets |
| GRIN1 | Glutamate NMDA receptor; GRIN1/GRIN2B | 1 | Glutamate NMDA receptor; GRIN1/GRIN2B antagonist | Phase 1/2 | https://conductscience.org/library/genes/2902 | Drugs and targets |
| GRIN2B | Glutamate NMDA receptor; GRIN1/GRIN2B | 1 | Glutamate NMDA receptor; GRIN1/GRIN2B antagonist | Phase 1/2 | https://conductscience.org/library/genes/2904 | Drugs and targets |
| GRM5 | Metabotropic glutamate receptor 5 | 1 | Metabotropic glutamate receptor 5 modulator | Phase 2 | https://conductscience.org/library/genes/2915 | Drugs and targets |
| HMGCR | 3-hydroxy-3-methylglutaryl-coenzyme A reductase | 1 | HMG-CoA reductase inhibitor | Phase 1/2 | https://conductscience.org/library/genes/3156 | Drugs and targets |
| PIK3CA | PI3-kinase class I | 1 | PI3-kinase class I inhibitor | Phase 1/2 | https://conductscience.org/library/genes/5290 | Drugs and targets |
1 to 10 of 20
See all 20 targetsTrials27
Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs. 1 more is not shown, since the checks do not confirm it.
| Trial | Title | Phase | Participants | Results first posted | Conditions | Drugs | Linked by | Source |
|---|---|---|---|---|---|---|---|---|
| NCT01713946 | A Placebo-controlled Study of Efficacy & Safety of 2 Trough-ranges of Everolimus as Adjunctive Therapy in Patients With Tuberous Sclerosis Complex (TSC) & Refractory Partial-onset Seizures | Phase 3 | 366 | 2018-11-07 | Tuberous Sclerosis Complex-associated Refractory Seizures | EVEROLIMUS | Its record names the disease | ClinicalTrials.gov |
| NCT02544750 | An Open-label Extension Trial of Cannabidiol (GWP42003-P, CBD) for Seizures in Tuberous Sclerosis Complex (GWPCARE6) | Phase 3 | 199 | 2022-07-14 | Tuberous Sclerosis Complex, Seizures | CANNABIDIOL | Its record names the disease | ClinicalTrials.gov |
| NCT00790400 | Efficacy and Safety of RAD001 in Patients Aged 18 and Over With Angiomyolipoma Associated With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM) | Phase 3 | 118 | 2012-08-28 | Tuberous Sclerosis Complex (TSC), Lymphangioleiomyomatosis (LAM) | EVEROLIMUS | Its record names the disease | ClinicalTrials.gov |
| NCT03826628 | Dose-Ranging Efficacy and Safety Study of Topical Rapamycin Cream for Facial Angiofibroma Associated With Tuberous Sclerosis Complex | Phase 2/3 | 107 | 2023-08-14 | Facial Angiofibroma, Tuberous Sclerosis | SIROLIMUS | Its record names the disease | ClinicalTrials.gov |
| NCT01289912 | Trial of RAD001 and Neurocognition in Tuberous Sclerosis Complex (TSC) | Phase 2 | 52 | 2018-01-25 | Tuberous Sclerosis Complex | EVEROLIMUS | Its record names the disease | ClinicalTrials.gov |
| NCT00126672 | RAPAMYCIN FOR KIDNEY ANGIOMYOLIPOMAS | Phase 2 | 36 | 2022-04-25 | Nonmalignant Neoplasm, Tuberous Sclerosis, Lymphangioleimyomatosis, Kidney Angiomyolipoma | SIROLIMUS | Its record names the disease | ClinicalTrials.gov |
| NCT03363763 | Topical Sirolimus Ointment for Cutaneous Angiofibromas in Subjects With Tuberous Sclerosis Complex | Phase 2 | 24 | 2025-12-01 | Angiofibroma of Face, Tuberous Sclerosis | SIROLIMUS | Its record names the disease | ClinicalTrials.gov |
| NCT02451696 | A Pilot Study To Evaluate The Effects of Everolimus on Brain mTOR Activity and Cortical Hyperexcitability in TSC and FCD | Phase 2 | 15 | 2021-09-01 | Epilepsy, Tuberous Sclerosis Complex, Focal Cortical Dysplasia | EVEROLIMUS | Its record names the disease | ClinicalTrials.gov |
| NCT02061397 | Safety of Simvastatin in LAM and TSC | Phase 1/2 | 10 | 2020-08-25 | Lymphangioleiomyomatosis, Tuberous Sclerosis Complex | SIMVASTATIN | Its record names the disease | ClinicalTrials.gov |
| NCT01929642 | Rapalogues for Autism Phenotype in TSC: A Feasibility Study | Phase 2 | 3 | 2021-03-29 | Tuberous Sclerosis Complex, Self-injury, Autism | EVEROLIMUS, SIROLIMUS | Its record names the disease | ClinicalTrials.gov |
1 to 10 of 27
See all 27 trialsComparisons in its trials10
Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.
| Comparison | Group 1, with the outcome | Group 2, with the outcome | Participants | Trial | Source |
|---|---|---|---|---|---|
| GWP42003-P (Double-blind Phase) vs Placebo (Double-blind Phase): deaths from any cause | 0 of 75 | 1 of 124 | 199 | NCT02544750 | Trial comparisons |
| GWP42003-P (Double-blind Phase) vs Placebo (Double-blind Phase): serious adverse events | 18 of 75 | 38 of 124 | 199 | NCT02544750 | Trial comparisons |
| RAD001 vs Placebo: serious adverse events | 3 of 32 | 0 of 15 | 47 | NCT01289912 | Trial comparisons |
| Treated Subjects vs Reference Subjects: Number of Patients With Adverse Events | 0 of 4 | 0 of 10 | 14 | NCT02451696 | Trial comparisons |
| Treated Subject vs Reference Subject: deaths from any cause | 0 of 4 | 0 of 10 | 14 | NCT02451696 | Trial comparisons |
| Treated Subject vs Reference Subject: serious adverse events | 0 of 4 | 0 of 10 | 14 | NCT02451696 | Trial comparisons |
| Tuberous Sclerosis Complex vs Dravet Syndrome: Number of Participants With Treatment-Emergent Adverse Events (TEAEs) | 2 of 2 | 1 of 1 | 3 | NCT04485104 | Trial comparisons |
| Tuberous Sclerosis Complex vs Dravet Syndrome: deaths from any cause | 0 of 2 | 0 of 1 | 3 | NCT04485104 | Trial comparisons |
| Tuberous Sclerosis Complex vs Dravet Syndrome: Number of Participants With Emergence of New Types of Seizures | 1 of 2 | 0 of 1 | 3 | NCT04485104 | Trial comparisons |
| Tuberous Sclerosis Complex vs Dravet Syndrome: serious adverse events | 2 of 2 | 0 of 1 | 3 | NCT04485104 | Trial comparisons |
Papers from its trials17
The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.
Data dates
The date of each source this release read.
Sources 6
- ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
- ChEMBL, through Open TargetsCC BY-SA 3.0
- ClinicalTrials.govNo license stated
- NLM's MeSHNLM's terms
- Open TargetsCC0 1.0
- PubMedNLM's terms
Each source's terms
- ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
- ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- ClinicalTrials.govnone stated
- NLM's MeSHNLM's
- Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- PubMedNLM's terms
ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.
For software
Read this disease from software.
The record and each of its lists are JSON, twenty rows a page. No key.
GET https://conductscience.org/api/diseases/v1/MONDO_0001734
GET https://conductscience.org/api/diseases/v1/MONDO_0001734/trials?page=2