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Disease

Tuberous Sclerosis

Late-stage therapeutic developmentEmerging research
MeSHTuberous Sclerosis
2
Publications
16
Clinical trials
9
Associated genes
2
Related proteins
2024
Latest publication
Latest activity
beta

Recent clinical, regulatory, research and industry developments relating to this disease.

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

Executive briefingUpdating summary…Momentum: Moderate
Key developments
  • 3 clinical trials expected to report results, the earliest in Q4 2026.
  • 2 industry developments reported.
Upcoming Milestones
Clinical Milestones7View
Results posted 1
Results expected 3
Recently completed 3
Industry & Market2View
Activity timeline9

Therapeutic landscape

Therapies with a regulatory footing for this condition, alongside the wider set of agents co-studied with it in the literature.

Approved & established therapies
Sirolimusapproved

Original application approval — Hyftor is indicated for the treatment of facial angiofibroma associated with tuberous scl… (2023)

Everolimusapproved

Original application approval — Renal angiomyolipoma associated with tuberous sclerosis complex (TSC) Votubia is indicate… (2011)

Clinical trials

12 sponsors · 0 new · 1 completed in the last 12 months (net +0)

The current development programme across all trial phases.

Clinical programme
16
All trials
6
Active
10
Late-stage
6
Completed
Late-stage studies

Treatment With Full-spectrum Cannabis Extract of Refractory Epilepsy Associated With Tuberous Sclerosis Complex (TSC)

Phase 3 · Recruiting · Oils4Cure

An Open-label, Multi-center Long-term Safety Roll-over Study in Patients With Tuberous Sclerosis Complex (TSC) and Refractory Seizures Who Are Judged by the Investigator to Benefit From Continued Treatment With Everolimus After Completion of Study CRAD001M2304.

Phase 3 · Active, not recruiting · Novartis Pharmaceuticals

A Long-term Safety Study to Assess the Potential for Chronic Liver Injury in Participants Treated With Epidiolex (Cannabidiol) Oral Solution

Phase 4 · Active, not recruiting · Jazz Pharmaceuticals

A Phase 2/3, Multi-Center, Double-Blind, Placebo-Controlled, Randomized, Parallel-Group, Dose-Response Comparison of the Efficacy and Safety of a Topical Rapamycin Cream for the Treatment of Facial Angiofibromas (FA) Associated With Tuberous Sclerosis Complex (TSC) in Patients 6 Years of Age and Over

Phase 2/3 · Completed · Dermatology Specialties Limited Partnership

A Phase 4, Interventional, Multicenter, Open-Label, Single-Arm Study to Assess Behavioral and Other Co-occurring Outcomes Following Treatment With EPID(I/Y)OLEX as Add-on Therapy in Participants (Aged 1 to 65 Years Old) With Seizures Associated With Tuberous Sclerosis Complex

Phase 4 · Completed · Jazz Pharmaceuticals

An Open-label, Single-arm Study to Assess the Safety, Pharmacokinetics, and Efficacy of Adjunctive Cannabidiol Oral Solution (GWP42003-P) in Participants With Tuberous Sclerosis Complex (Age 1 Month to < 2 Years of Age), Dravet Syndrome (1 Year to < 2 Years of Age), or Lennox-Gastaut Syndrome (1 Year to < 2 Years of Age) Who Experience Inadequately-controlled Seizures

Phase 3 · Terminated · Jazz Pharmaceuticals
Recently completed

A Phase 4, Interventional, Multicenter, Open-Label, Single-Arm Study to Assess Behavioral and Other Co-occurring Outcomes Following Treatment With EPID(I/Y)OLEX as Add-on Therapy in Participants (Aged 1 to 65 Years Old) With Seizures Associated With Tuberous Sclerosis Complex

Phase 4 · Completed · Jazz Pharmaceuticals

Placebo-controlled Comparative Study of NPC-12Y Gel in Patients With Skin Lesions Associated With Tuberous Sclerosis Complex

Phase 3 · Completed · Nobelpharma

A Phase 3, Double-blind, Randomized, Placebo-controlled Trial of Adjunctive Ganaxolone (GNX) Treatment in Children and Adults With Tuberous Sclerosis Complex (TSC)-Related Epilepsy (TrustTSC)

Phase 3 · Completed · Marinus Pharmaceuticals

A Phase 2/3, Multi-Center, Double-Blind, Placebo-Controlled, Randomized, Parallel-Group, Dose-Response Comparison of the Efficacy and Safety of a Topical Rapamycin Cream for the Treatment of Facial Angiofibromas (FA) Associated With Tuberous Sclerosis Complex (TSC) in Patients 6 Years of Age and Over

Phase 2/3 · Completed · Dermatology Specialties Limited Partnership

A Double-blind, Randomized, Placebo-controlled Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P, CBD) as Add-on Therapy in Patients With Tuberous Sclerosis Complex Who Experience Inadequately-controlled Seizures

Phase 3 · Completed · Jazz Pharmaceuticals

The Safety of Simvastatin (SOS) in Patients With Pulmonary Lymphangioleiomyomatosis (LAM) and With Tuberous Sclerosis Complex (TSC)

Phase 1/2 · Completed · University of Pennsylvania

Regulatory timeline

Drug regulatory events matched to this condition by indication — EMA.

Product approvals and authorisations
2023emaOriginal application approval — Sirolimus· Hyftor is indicated for the treatment of facial angiofibroma associated with tuberous sclerosis complex in adults and paediatric patients aged 6 years and older. source ↗
2011emaOriginal application approval — Everolimus· Renal angiomyolipoma associated with tuberous sclerosis complex (TSC) Votubia is indicated for the treatment of adult patients with renal angiomyolipoma associated with tuberous sclerosis complex (TSC) who are at risk of complications (based on factors such as tumour size or presence of aneurysm, or presence of multiple or bilateral tumours) but who do not require immediate surgery. The evidence is based on analysis of change in sum of angiomyolipoma volume. Subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC) Votubia is indicated for the treatment of patients with subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC) who require therapeutic intervention but are not amenable to surgery. The evidence is based on analysis of change in SEGA volume. Further clinical benefit, such as improvement in disease?related symptoms, has not been demonstrated. source ↗

European Medicines Agency (CC BY 4.0). Events are matched to this condition by drug indication text — approvals/updates for drugs indicated for it, not disease-specific acts.

Research activity

2 papers

Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.

Publications over time
2023–2024
Major themes3
  • Tuberous Sclerosis2
  • Autism Spectrum Disorder1
  • Induced Pluripotent Stem Cells1
Leading journals2
  • Cell reports1
  • Genes1
Leading researchers8
  • Chen C1
  • Chen R1
  • Di Scipio M1
  • Ejaz R1
  • Grewal S1
  • Man A1
  • Pham TT1
  • Ruiz J1
Affiliations (unnormalised)4
  • Boston Children's Hospital1
  • McMaster Children's Hospital1
  • McMaster University1
  • Michael G. DeGroote School of Medicine1

Associated genes

9 matches

Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.

TSC20.86TSC10.86FKBP1A0.57IFNG0.38ROBO30.16VEGFD0.08JADE30.05GPR320.05MS4A140.01

Disease biology

2 matches

Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.

Peptidyl-prolyl cis-trans isomerase FKBP1Avia FKBP1A0.57Interferon gammavia IFNG0.38

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.

Identifiers
MeSHTuberous Sclerosis
References & data sources
  • Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
  • Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
  • Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
  • Related entities are derived from literature co-mention (studied together) — associative, not causal.