ORPHA:251612
Pilocytic astrocytoma
Publications
10,855
98.1th percentile
Trials
19
Interventional, condition-specific
Researchers
1,226
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare astrocytoma characterized by bipolar hair-like projections extending from the neoplastic astrocytes, myxoid areas, eosinophilic granular bodies, and Rosenthal fibers. This WHO grade 1 tumor is most often located in the cerebellum in children, or in the hypothalamus, brain stem, optic chiasma, and brain hemispheres in adults. Depending on the primary location and the growth rate of the tumor, patients may present with signs of increased intracranial pressure or focal neurological signs such as decreased visual acuity, , and/or nystagmus, among other symptoms. Molecularly, it exhibits alterations in genes of the MAPK signaling pathway, most commonly KIAA1549::BRAF fusion.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0016691
- UMLS:C0334583
- NCIT:C4047
Additional Mondo synonyms (7)
astrocytoma, benign · astrocytoma, pilocytic, benign · grade I astrocytic neoplasm · grade I astrocytic tumor · grade I astrocytic tumour · grade I astrocytoma · pilocytic astrocytoma
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.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
10,855 matched papers (6,900 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
19 matched on ClinicalTrials.gov (2 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)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
10,855
10,855 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=5449) is 41.
10,855 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
6,900 in the last 10 years · high confidence · 98.1th percentile (publications denominator)
Phrase hits: 10,855 · MeSH hits: 0
Who's working on it?
1,226
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.
- 01Jahangiri A4 papers · 2025
3Department of Neurosurgery, Emory University School of Medicine, Atlanta; and.
Papers in Europe PMC - 02Chen N3 papers · 2026
Advanced Molecular Pathology Institute of Soochow University and SANO, Suzhou, China.
Papers in Europe PMC - 03Chern JJ3 papers · 2025
3Department of Neurosurgery, Children's Healthcare of Atlanta, Georgia.
Papers in Europe PMC - 04Das S3 papers · 2025
Department of Pathology, Agilus Diagnostics Ltd, Fortis Memorial Research Institute, Gurugram, India.
Papers in Europe PMC - 05Hoang K3 papers · 2025
3Department of Neurosurgery, Emory University School of Medicine, Atlanta; and.
Papers in Europe PMC - 06Kanamori M3 papers · 2026
Department of Neurosurgery, Tohoku University Graduate School of Medicine.
Papers in Europe PMC - 07Kedia S3 papers · 2025
Department of Neurosurgery, All India Institute of Medical Sciences, New Delhi, India.
Papers in Europe PMC - 08Ma T3 papers · 2025
2Department of Biostatistics and Bioinformatics, Rollins School of Public Health, Emory University, Atlanta.
Papers in Europe PMC - 09Mao S3 papers · 2025
2Department of Biostatistics and Bioinformatics, Rollins School of Public Health, Emory University, Atlanta.
Papers in Europe PMC - 10
Clinical research
Is a treatment being tested?
19
interventional trials for this specific condition
19 interventional trials matched this specific condition name; 2 currently recruiting in our sample.
Data as of 27 July 2026
19 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 94.2th percentile).
high confidence · 94.2th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
19 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT04065776·RECRUITING·Evaluation of Hippocampal-Avoidance Using Proton Therapy in Low-Grade Glioma
Conditions: Glioma · Pilocytic Astrocytoma · Pilomyxoid Astrocytoma · Pleomorphic Xanthoastrocytoma·Matched via name phrase
- NCT04541082·RECRUITING·Phase I Study of Oral ONC206 in Recurrent and Rare Primary Central Nervous System Neoplasms
Conditions: Central Nervous System Neoplasms · Glioblastoma · Gliosarcoma, Adult · Anaplastic Oligodendroglioma·Matched via name phrase
Observational and natural-history studies
2 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
- NCT06915649·RECRUITING·Exploration and Evaluation of Amygdalo-Hippocampectomy According to Prof. Coubes' Technique: An Anatomical, Clinical, and Educational Approach
Conditions: Hippocampal Sclerosis · Dysembryoplastic Neuroepithelial Tumor · Cortical Dysplasia · Ganglioglioma·Matched via name phrase
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This 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.
"Pilocytic astrocytoma" OR "astrocytoma, benign" OR "astrocytoma, pilocytic, benign" OR "grade I astrocytic neoplasm" OR "grade I astrocytic tumor" OR "grade I astrocytic tumour" OR "grade I astrocytoma"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Pilocytic astrocytoma" OR "astrocytoma, benign" OR "astrocytoma, pilocytic, benign" OR "grade I astrocytic neoplasm" OR "grade I astrocytic tumor" OR "grade I astrocytic tumour" OR "grade I astrocytoma"
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: 19 interventional · 2 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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T10:49:35.624Z