ORPHA:251612
Pilocytic astrocytoma
Publications
10,855
96th 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 found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
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)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
2
Drugs / clinical candidates · MONDO_0016691
- HILTONOL·phase 1
- SELUMETINIB·phase 1 2
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
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=3967) is 59.
10,855 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).
6,900 in the last 10 years · high confidence · 96th 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 11 September 2026
19 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 94.6th percentile).
high confidence · 94.6th 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
Not reviewed·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
Not reviewed·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
Not reviewed·Conditions: Hippocampal Sclerosis · Dysembryoplastic Neuroepithelial Tumor · Cortical Dysplasia · Ganglioglioma·Matched via name phrase
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 61 · after dedupe 60 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 60 · 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 (60)
- isrctn·ISRCTN19852453·No longer recruiting·Radiochemotherapy trial with radiotherapy and temozolomide chemotherapy for children and young adolescents 3 years and older to 18 years of age with primary high grade glioma, pontine glioma or gliomatosis cerebri
skipped — LLM skipped (--skip-llm)
- ctis·2025-523923-22-00·Authorised·A Phase 2, Open-Label, Single-Arm Study of Lirafugratinib in Patients With Previously Treated, Unresectable, Locally Advanced or Metastatic Solid Tumors (Excluding Cholangiocarcinoma) With FGFR2 Fusion or Rearrangement
skipped — LLM skipped (--skip-llm)
- ctis·2025-525123-27-00·Authorised·SERENDIPITY: phase III multicentric randomized study assessing the reduction of chronic prostate inflammation with Permixon®
skipped — LLM skipped (--skip-llm)
- ctis·2025-522845-23-00·Authorised·An open-label, non-randomized, single center, single dose, exploratory phase II trial of FG001 (an imaging agent) in combination with transoral robotic surgery for oropharyngeal squamous cell carcinoma and neck dissection surgery for oral squamous cell carcinoma with regional lymph node metastases
skipped — LLM skipped (--skip-llm)
- ctis·2025-524620-22-00·Authorised, recruiting·A 2-part phase 1/2 open-label trial evaluating the safety, tolerability, pharmacokinetics, pharmacodynamics, and efficacy of ODM-212 in combination with anti-cancer therapy in participants with advanced solid tumours
skipped — LLM skipped (--skip-llm)
- ctis·2025-521891-78-00·Authorised·IMMUNOTIME « EVALUATION OF THE EFFECT OF TIME OF ADMINISTRATION ON THE ACTIVITY ON FIRST LINE OF PEMBROLIZUMAB IN ASSOCIATION WITH CARBOPLATIN PEMETREXED IN METASTATIC NON-SQUAMOUS LUNG CANCER. A RANDOMISED MULTICENTER PHASE III TRIAL»
skipped — LLM skipped (--skip-llm)
- ctis·2025-521000-22-00·Authorised, recruiting·A clinical trial to learn about the effects of DAK539 on the blood levels of repaglinide, midazolam, drospirenone, and ethinyl estradiol in people with advanced cancer
skipped — LLM skipped (--skip-llm)
- ctis·2025-521001-40-00·Authorised, recruiting·A clinical trial to learn how liver function affects the blood levels of DAK539 in people with advanced cancer
skipped — LLM skipped (--skip-llm)
- ctis·2025-521090-14-00·Authorised·A Phase 2, single arm Multicenter, Study testing Mezigdomide, Carfilzomib, and Dexamethasone (480Kd) in Participants with Relapsed or Refractory Multiple Myeloma (RRMM). (MEZI-KD)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524358-32-00·Authorised, ongoing·PAROCAINE : Evaluation of the Clinical Tolerance of an Intra-Parotid Injection of Bupivacaine Combined with Dexamethasone After Parotidectomy for a Benign Tumor – Prospective Single-Center Cohort Study
skipped — LLM skipped (--skip-llm)
- ctis·2025-522512-16-00·Authorised, ongoing·Phase 1 trial of valemetostat and darolutamide in mCRPC
skipped — LLM skipped (--skip-llm)
- ctis·2025-522399-10-00·Authorised·Nordic PREdnisolon for VEstibular NeuriTis Study – an investigator-driven, triple blind, placebo controlled randomized trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-516551-41-00·Authorised, ongoing·A Phase 2, open-label, multicenter study to evaluate efficacy and safety of zanidatamab for the treatment of participants with previously treated HER2-expressing solid tumors (DiscovHER PAN-206)
skipped — LLM skipped (--skip-llm)
- ctis·2025-521843-19-00·Authorised, ongoing·Efficacy of Tuvusertib in Recurrent IDH mutant Astrocytoma with ATRX mutation, a phase II prospective trial.
skipped — LLM skipped (--skip-llm)
- ctis·2024-519404-27-00·Authorised, ongoing·EORTC-2427-BTG: Vorasidenib as maintenance treatment after first-line chemoradiotherapy in IDH-mutant grade 2 or 3 astrocytoma: a placebo-controlled, triple-blind, randomized phase III study (VIGOR)
skipped — LLM skipped (--skip-llm)
- ctis·2025-521707-48-00·Authorised, ongoing·AMG 410 Alone and in Combination with other agents in Participants with KRAS Altered Advanced or Metastatic Solid Tumors
skipped — LLM skipped (--skip-llm)
- ctis·2025-522774-36-00·Authorised, ongoing·A Phase 1 Study of NDI-219216 in Patients with Advanced Solid Tumors with and without Microsatellite Instability and/or Deficient Mismatch Repair
skipped — LLM skipped (--skip-llm)
- ctis·2025-520714-63-00·Authorised, ongoing·A Phase III b randomized open-label trial on metformin for cancer prevention in adolescents and adults with Li-Fraumeni syndrome (LFS)
skipped — LLM skipped (--skip-llm)
- ctis·2024-517133-40-00·Authorised·Comparison of neurocognitive outcome in two standard regimen for treatment of low-risk medulloblastoma (COGNITO-MB)
skipped — LLM skipped (--skip-llm)
- ctis·2025-521093-34-00·Authorised·BeCALM - Brentuximab vedotin in CutAneous T-cell Lymphomas (CTCL): post-allogeneic hematopoietic stem cell transplant Maintenance
skipped — LLM skipped (--skip-llm)
- ctis·2024-514085-39-00·Authorised, ongoing·RUBIKID - Dynamic 82-Rb positron emission tomography (PET) for the grading of KIDney carcinoma
skipped — LLM skipped (--skip-llm)
- ctis·2023-505569-95-00·Authorised·A Phase 4, Open-Label, Non-randomised, Multicentre Study to Evaluate Safety and Efficacy of Intravenous Administration of Sonazoid™ for Contrast-Enhanced Ultrasound Liver Imaging in Paediatric Patients.
skipped — LLM skipped (--skip-llm)
- ctis·2024-517625-72-00·Cancelled·An open label, balanced, randomized, two-treatment, two-period, two-sequence, single-dose, crossover, bioequivalence study comparing Tamsulosin Hydrochloride Capsules USP 0.4 mg, manufactured by Sun Pharmaceutical Industries Limited, India with Tamsulosin Hydrochloride extended-release capsules 0.4 mg, Product of Geolab Indústria Farmacêutica S/A, VP. 1B QD.08-B Modules 01 to 08, DAIA - Anápolis – GO, in healthy adult, human male subjects under fasting condition.
skipped — LLM skipped (--skip-llm)
- ctis·2024-517780-24-00·Authorised, ongoing·A Phase III, Randomized, Double-blind, Multicenter, Global Study of Rilvegostomig or Pembrolizumab Monotherapy for the First-line Treatment of Patients with PD-L1-high Metastatic Non-small Cell Lung Cancer (ARTEMIDE-Lung04)
skipped — LLM skipped (--skip-llm)
- ctis·2024-519929-38-00·Authorised, ongoing·– IKF/AIO-QUINTIS –
A Randomized Phase II Trial Evaluating Fruquintinib in Combination with Tislelizumab in Microsatellite Stable / Proficient Mismatch Repair (MSS/pMMR) Metastatic Colorectal Cancer without Active Liver Metastases
skipped — LLM skipped (--skip-llm)
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 Pilocytic astrocytoma — check Associations / patient organisations on that page.
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