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ORPHA:251618

Subependymal giant cell astrocytoma

low confidenceDisorder

Also known as: SEGA

Publications

2,147

Trials

18

Interventional, condition-specific

Researchers

1,112

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare astrocytoma characterized by a benign, slowly growing lesion that typically arises in the walls of the lateral ventricles, and most commonly occurs in patients <&nbsp;20 years with tuberous sclerosis complex. Most patients present with worsening or symptoms of increased intracranial pressure. This WHO grade 1 tumor is composed of astrocytes with various phenotypes (i.e. polygonal, gemistocytic, spindle, and ganglionic-like). On immunohistochemistry, it is usually positive for GFAP, S100, beta-tubulin, neurofilament, synaptophysin, NeuN, TTF1, and phosphorylated S6 but shows weak or negative staining for tuberin, hamartin, and Ki-67. It has its specific DNA methylation profile.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

subependymal giant cell astrocytic neoplasm · subependymal giant cell astrocytic tumor · subependymal giant cell astrocytic tumour · subependymal giant cell astrocytoma (morphologic abnormality)

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.”

3/6 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

    2,147 matched papers (1,414 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPartial

    1 FDA designation (none yet with FDA orphan-indication approval) — e.g. everolimus Source

  6. Interventional trialPresent

    18 matched on ClinicalTrials.gov

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)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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)

1

Designation · no FDA orphan-indication approval yet

  • FDA everolimus (Afinitor)Tuberous Sclerosis Complex Subependymal Giant Cell Astrocytoma Angiomyolipoma Lymphangioleiomyomatosis Subependymal Giant Cell Astrocytoma tuberous sclerosis complex · 2009-06-08

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0016693

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,147

2,147 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

2,147 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).

1,414 in the last 10 years · low confidence

Phrase hits: 2,147 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,112

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
    Wang X7 papers · 2025

    Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China. wangxc@mail.ccmu.edu.cn.

    Papers in Europe PMC
  2. 02
    Wang J4 papers · 2026

    Department of Radiology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.

    Papers in Europe PMC
  3. 03
    Liu J3 papers · 2026

    Department of Gerontology, Shandong Provincial Qianfoshan Hospital, The First Affiliated Hospital of Shandong First Medical University, 16766 Jingshi Road, Jinan, 250014, China. drjinzhiliu@163.com.

    Papers in Europe PMC
  4. 04
    Aum DJ2 papers · 2024

    Departments of2Neurosurgery.

    Papers in Europe PMC
  5. 05
    Barresi V2 papers · 2025

    Neuropathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

    Papers in Europe PMC
  6. 06
    Berger YØ2 papers · 2025

    Institute of Psychology, University of Oslo, Oslo, Norway.

    Papers in Europe PMC
  7. 07
    Calderón-Garcidueñas AL2 papers · 2024

    Neuropathology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, MEX.

    Papers in Europe PMC
  8. 08
    Espinosa-Aguilar EJ2 papers · 2024

    Internal Medicine, Clínica-Hospital Mérida, Mérida, MEX.

    Papers in Europe PMC
  9. 09
    Fang Y2 papers · 2026

    Shenzhen Children's Hospital, China Medical University, Shenzhen, China.

    Papers in Europe PMC
  10. 10
    Farrell CJ2 papers · 2025

    2Department of Neurological Surgery, Thomas Jefferson University, Philadelphia, Pennsylvania.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

18

interventional trials for this specific condition

18 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026

18 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 94.5th percentile).

low confidence · 94.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

1 observational study matches 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.

None of the matched observational studies is currently listed as 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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-30

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 (1)

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 Subependymal giant cell astrocytoma — 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.

"Subependymal giant cell astrocytoma" OR "subependymal giant cell astrocytic neoplasm" OR "subependymal giant cell astrocytic tumor" OR "subependymal giant cell astrocytic tumour" OR "subependymal giant cell astrocytoma (morphologic abnormality)"

Run this search on Europe PMC

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

"Subependymal giant cell astrocytoma" OR "subependymal giant cell astrocytic neoplasm" OR "subependymal giant cell astrocytic tumor" OR "subependymal giant cell astrocytic tumour" OR "subependymal giant cell astrocytoma (morphologic abnormality)"

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: 18 interventional · 1 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: SEGA

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
  • Publication count (2147) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T10:49:58.337Z