Optic pathway glioma
diseaseOn this page
Also known as glioma of optic tractglioma of the optic tractglioma of the visual pathwayglioma of visual pathwayoptic tract gliomavisual pathway glioma
Summary
Optic pathway glioma (MONDO:0016167) is a cancer and 8 clinical trials. Top therapeutic interventions include selumetinib, carboplatin, and avutometinib. A subtype of visual pathway disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Classification: Cancer
- Prevalence: Unknown (Europe)
- Phenotypes (HPO): 23
- Clinical trials: 8
Clinical features
Epidemiology
Prevalence records
1 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.12 | Worldwide | Not yet validated |
Signs & symptoms
Clinical features (HPO)
23 HPO clinical features (Orphanet curated; top 23 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000572 | Visual loss | Frequent (30-79%) |
| HP:0000639 | Nystagmus | Frequent (30-79%) |
| HP:0000648 | Optic atrophy | Frequent (30-79%) |
| HP:0001067 | Neurofibromas | Frequent (30-79%) |
| HP:0007663 | Reduced visual acuity | Frequent (30-79%) |
| HP:0000238 | Hydrocephalus | Occasional (5-29%) |
| HP:0000486 | Strabismus | Occasional (5-29%) |
| HP:0000520 | Proptosis | Occasional (5-29%) |
| HP:0000602 | Ophthalmoplegia | Occasional (5-29%) |
| HP:0000618 | Blindness | Occasional (5-29%) |
| HP:0000707 | Abnormality of the nervous system | Occasional (5-29%) |
| HP:0000826 | Precocious puberty | Occasional (5-29%) |
| HP:0001085 | Papilledema | Occasional (5-29%) |
| HP:0001123 | Visual field defect | Occasional (5-29%) |
| HP:0001250 | Seizure | Occasional (5-29%) |
| HP:0001263 | Global developmental delay | Occasional (5-29%) |
| HP:0001510 | Growth delay | Occasional (5-29%) |
| HP:0002013 | Vomiting | Occasional (5-29%) |
| HP:0002018 | Nausea | Occasional (5-29%) |
| HP:0002315 | Headache | Occasional (5-29%) |
| HP:0002321 | Vertigo | Occasional (5-29%) |
| HP:0002376 | Developmental regression | Occasional (5-29%) |
| HP:0003473 | Fatigable weakness | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | optic pathway glioma |
| Mondo ID | MONDO:0016167 |
| Orphanet | 2086 |
| ICD-11 | 1000103370 |
| NCIT | C8567 |
| UMLS | C0796418 |
| MedGen | 162950 |
| GARD | 0004107 |
| Anatomy (UBERON) | UBERON:0001908 |
| Is cancer (heuristic) | yes |
Also known as: glioma of optic tract · glioma of the optic tract · glioma of the visual pathway · glioma of visual pathway · optic pathway glioma · optic tract glioma · visual pathway glioma
Disease family
This is a subtype of visual pathway disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › nervous system disorder › central nervous system disorder › brain disorder › visual pathway disorder › optic pathway glioma
Related subtypes (4): retinal nerve fiber layer disorder, visual cortex disorder, coloboma of optic nerve, optic tract meningioma
Subtypes (2): optic nerve glioma, optic tract astrocytoma
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 8.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| PHASE2 | 3 |
| PHASE1 | 2 |
| PHASE3 | 1 |
| PHASE1/PHASE2 | 1 |
| Not specified | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT03871257 | PHASE3 | ACTIVE_NOT_RECRUITING | A Study of the Drugs Selumetinib Versus Carboplatin/Vincristine in Patients With Neurofibromatosis and Low-Grade Glioma |
| NCT01089101 | PHASE1/PHASE2 | ACTIVE_NOT_RECRUITING | Selumetinib in Treating Young Patients With Recurrent or Refractory Low Grade Glioma |
| NCT05733572 | PHASE2 | ACTIVE_NOT_RECRUITING | Safety and Efficacy of the PAINLESS Nerve Growth Factor CHF6467 in Optic Pathway Glioma (OPG) |
| NCT00003477 | PHASE2 | COMPLETED | Antineoplaston Therapy in Treating Children With Visual Pathway Glioma |
| NCT02343224 | PHASE2 | COMPLETED | Pegylated Interferon ALFA-2b in Children With Juvenile Pilocytic Astrocytomas and Optic Pathway Gliomas |
| NCT06104488 | PHASE1 | RECRUITING | A Study of Avutometinib for People With Solid Tumor Cancers |
| NCT02780804 | PHASE1 | COMPLETED | Entinostat in Treating Pediatric Patients With Recurrent or Refractory Solid Tumors |
| NCT04065776 | Not specified | RECRUITING | Evaluation of Hippocampal-Avoidance Using Proton Therapy in Low-Grade Glioma |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| SELUMETINIB | 4 | 3 |
| CARBOPLATIN | 4 | 1 |
| AVUTOMETINIB | 3 | 1 |
| ENTINOSTAT | 3 | 1 |
| CHF-6467 | 2 | 1 |
| CHEMBL4463209 | 0 | 1 |
Related Atlas pages
- Drugs: Selumetinib, Carboplatin, Avutometinib, Entinostat