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ORPHA:805

Tuberous sclerosis complex

medium confidenceDisorder

Also known as: Bourneville syndrome · Tuberous sclerosis

Publications

35,157

98.4th percentile

Trials

71

Interventional, condition-specific

Researchers

1,300

Distinct authors in sample

Gene link

—

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare neurocutaneous disorder characterized by multisystem hamartomas, most commonly involving the skin, brain, kidneys, lungs, eye, and heart, and associated with neuropsychiatric disorders.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (8)

Bourneville disease · Bourneville's disease · Bourneville's syndrome · TSC · epiloia · tuberous sclerosis · tuberous sclerosis complex · tuberous sclerosis syndrome

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    35,157 matched papers (18,432 in last 10 years) Source

  3. Phenotype characterisedPresent

    139 HPO annotations (e.g. Atypical behavior; Cortical dysplasia; Cortical tubers) Source

  4. Animal modelPresent

    26 genotype models (Mus musculus, Danio rerio) Source

  5. Orphan designationPresent

    7 FDA · 6 EMA designations (5 FDA orphan-indication approvals) — e.g. sirolimus Source

  6. Interventional trialPresent

    71 matched on ClinicalTrials.gov (11 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

139

Associated phenotypes · MONDO:0001734

  • Atypical behavior
  • Cortical dysplasia
  • Cortical tubers
  • Shagreen patch
  • Angiofibromas

Showing 5 of 139 — open Monarch for the full list.

Animal models (Monarch / Alliance)

26

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

13

Designations · 5 with FDA orphan-indication approval

  • FDA sirolimusTuberous Sclerosis Complex · 2019-08-26 · Not FDA Approved for Orphan Indication
  • FDA sirolimusTuberous Sclerosis Angiofibroma · 2017-05-17 · Not FDA Approved for Orphan Indication
  • FDA sirolimusTuberous Sclerosis Complex Facial angiofibromas · 2017-02-13 · Not FDA Approved for Orphan Indication
  • FDA rapamycinTuberous Sclerosis Complex Facial angiofibromas · 2016-02-24 · Not FDA Approved for Orphan Indication
  • FDA rapamycinTuberous Sclerosis Complex · 2007-03-20 · Not FDA Approved for Orphan Indication
  • EMA sirolimus (Hyftor)Treatment of tuberous sclerosis · 23/08/2017 · PositiveEMA designation
  • EMA sirolimusTreatment of tuberous sclerosis · 20/06/2017 · PositiveEMA designation
  • EMA cannabidiol (Epidyolex)Treatment of tuberous sclerosis · 17/01/2018 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

12

Drugs / clinical candidates · MONDO_0001734

CTD chemicals (MyDisease.info)

4 associated chemicals · 89 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Everolimus · therapeutic
  • Sirolimus · therapeutic
  • temsirolimus · therapeutic
  • Vigabatrin · therapeutic

Pathways: Proteasome; Cytokine-cytokine receptor interaction; HIF-1 signaling pathway; Phospholipase D signaling pathway; p53 signaling pathway; Autophagy - animal; mTOR signaling pathway; PI3K-Akt signaling pathway

MyDisease.info · MONDO:0001734

Literature

Is anyone studying this?

35,157

35,157 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

35,157 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

18,432 in the last 10 years · medium confidence · 98.4th percentile (publications denominator)

Phrase hits: 35,157 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,300

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Northrup H8 papers · 2026

    Division of Medical Genetics, Department of Pediatrics, McGovern Medical School at UTHealth Houston, Houston, Texas.

    Papers in Europe PMC
  2. 02
    Li Y7 papers · 2026

    Department of Emergency, The Second Affiliated Hospital, School of Basic Medical Sciences, Guangzhou Medical University, Guangzhou, China.

    Papers in Europe PMC
  3. 03
    Sahin M6 papers · 2026

    Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.

    Papers in Europe PMC
  4. 04
    Bebin EM5 papers · 2026

    Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama.

    Papers in Europe PMC
  5. 05
    Krueger DA5 papers · 2026

    Division of Neurology, Cincinnati Children's Hospital Medical Center and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.

    Papers in Europe PMC
  6. 06
    Liu S5 papers · 2026

    Comprehensive Epilepsy Center, Department of Neurosurgery, Xinqiao Hospital, Army Military Medical University, Chongqing, China.

    Papers in Europe PMC
  7. 07
    Liu X5 papers · 2026

    Comprehensive Epilepsy Center, Department of Neurosurgery, Xinqiao Hospital, Army Military Medical University, Chongqing, China.

    Papers in Europe PMC
  8. 08
    Wang H5 papers · 2026

    Department of Pathology, The Third Affiliated Hospital of Soochow University, Changzhou, China.

    Papers in Europe PMC
  9. 09
    Wang J5 papers · 2026

    Department of Medical Genetics and Developmental Biology School of Basic Medical Sciences, Capital Medical University Beijing China.

    Papers in Europe PMC
  10. 10
    Liao J4 papers · 2026

    Department of Neurology, Shenzhen Children's Hospital, Shenzhen, China 518038, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

71

interventional trials for this specific condition

71 interventional trials matched this specific condition name; 11 currently recruiting in our sample.

Data as of 11 September 2026

71 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 98th percentile).

medium confidence · 98th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

71 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

35 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 24 · after dedupe 24 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 24 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (24)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Tuberous sclerosis complex — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Tuberous sclerosis complex" OR "Bourneville syndrome" OR "Tuberous sclerosis" OR "Bourneville disease" OR "Bourneville's disease" OR "Bourneville's syndrome" OR "epiloia" OR "tuberous sclerosis syndrome"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Tuberous sclerosis complex" OR "Bourneville syndrome" OR "Tuberous sclerosis" OR "Bourneville disease" OR "Bourneville's disease" OR "Bourneville's syndrome" OR "epiloia" OR "tuberous sclerosis syndrome"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 71 interventional · 35 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: TSC

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T15:25:28.923Z