ORPHA:1053
Vein of Galen malformation
Also known as: VOGM · Vein of Galen arteriovenous malformation
Publications
610
86.2th percentile
Trials
2
Interventional, condition-specific
Researchers
977
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare intracranial high-flow vascular characterized by arteriovenous shunts draining into the median prosencephalic vein of Markowski, embryonic precursor of the vein of Galen, typically presenting in neonates or infants.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0015196
- MeSH:C536535
- UMLS:C0431420
- NCIT:C98642
Additional Mondo synonyms (1)
vein of Galen arteriovenous malformations
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
610 matched papers (337 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
2 matched on ClinicalTrials.gov (1 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?
610
610 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=5449) is 41.
610 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).
337 in the last 10 years · medium confidence · 86.2th percentile (publications denominator)
Phrase hits: 610 · MeSH hits: 0
Who's working on it?
977
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.
- 01Orbach DB19 papers · 2026
From the Departments of Neurosurgery (L.A., M.L., A.M., D.B.O.) darren.orbach@childrens.harvard.edu.
Papers in Europe PMC - 02See AP10 papers · 2026
Department of Neurosurgery, Boston Children's Hospital, Boston, Massachusetts, USA.
Papers in Europe PMC - 03Berenstein A9 papers · 2026
Department of Neurosurgery, 5864The Mount Sinai Hospital, The Mount Sinai Hospital, USA.
Papers in Europe PMC - 04Shigematsu T9 papers · 2026
Department of Neurosurgery, 5864The Mount Sinai Hospital, The Mount Sinai Hospital, USA.
Papers in Europe PMC - 05Krings T8 papers · 2026
Division of Interventional Radiology, University of Toronto and the Hospital for Sick Children, Toronto, ON, Canada.
Papers in Europe PMC - 06Rangwala SD8 papers · 2026
Department of Neurological Surgery, Boston Children's Hospital, Boston, Massachusetts, USA.
Papers in Europe PMC - 07Brevis Nuñez F5 papers · 2025
Department of Neonatology & Pediatric Intensive Care, Sana-Kliniken Duisburg GmbH, Duisburg, Germany. Electronic address: francisco.brevis@sana.de.
Papers in Europe PMC - 08Dohna-Schwake C5 papers · 2025
Department of Pediatrics I, University Medicine Essen, Essen, Germany.
Papers in Europe PMC - 09Fifi JT5 papers · 2026
Department of Neurosurgery, Icahn School of Medicine at Mount Sinai, New York, New York, USA Johanna.Fifi@mountsinai.org.
Papers in Europe PMC - 10Schwarz S5 papers · 2025
Department of Neonatology and Pediatric Intensive Care Medicine, Sana Clinics Duisburg, Zu den Rehwiesen 9, 47055, Duisburg, Germany.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
medium confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07483255·RECRUITING·A Phase II Trial of Fetal Embolization for Vein of Galen Malformation
Conditions: Vein of Galen Malformations·Matched via name phrase
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.
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.
"Vein of Galen malformation" OR "Vein of the Galen malformation" OR "Vein of Galen arteriovenous malformation" OR "Vein of the Galen arteriovenous malformation" OR "vein of Galen arteriovenous malformations" OR "vein of the Galen arteriovenous malformations"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Vein of Galen malformation" OR "Vein of the Galen malformation" OR "Vein of Galen arteriovenous malformation" OR "Vein of the Galen arteriovenous malformation" OR "vein of Galen arteriovenous malformations" OR "vein of the Galen arteriovenous malformations"
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: 2 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: VOGM
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 2026-07-26T16:17:10.443Z