RARE DISEASERESEARCH ATLAS

ORPHA:715284

Spinal cord arteriovenous malformation, nidus type

low confidenceDisorder

Also known as: SCAVM

Publications

37

Trials

0

Interventional, condition-specific

Researchers

336

Distinct authors in sample

Gene link

Readiness

1/6

Stages with a signal

How rare: How common this is has not been clearly measured.

Orphanet entry

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.”

1/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    37 matched papers (11 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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?

37

37 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

37 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).

11 in the last 10 years · low confidence

Phrase hits: 37 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

336

Distinct author names in 37 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Chong W6 papers

    Australian School of Advanced Medicine, Macquarie University, Sydney, Australia Neurosurgery Department, Jikei University School of Medicine, Tokyo, Japan Centre for Advanced Biomedical Science, Tokyo, Japan - Email:

    Papers in Europe PMC
  2. 02
    Lasjaunias P6 papers · 2004

    Department of Radiology, Siriraj Hospital, Mahidol University, Bangkok, Thailand

    Papers in Europe PMC
  3. 03
    Niimi Y6 papers · 2023

    The Center for Endovascular Surgery, Hyman-Newman Institute for Neurology and Neurosurgery, Beth Israel Medical Center, Singer Division; New York, USA.

    Papers in Europe PMC
  4. 04
    Alvarez H5 papers · 2004
    Papers in Europe PMC
  5. 05
    Berenstein A5 papers · 2015

    Center for Endovascular Surgery (A.B.), Roosevelt Hospital, New York, New York.

    Papers in Europe PMC
  6. 06
    Rodesch G5 papers · 2004

    Neuroradiologie Vasculaire Diagnostique et Thérapeutique, Hôpital Bicêtre; Le Kremlin Bicêtre, France.

    Papers in Europe PMC
  7. 07
    Jiarakongmun P4 papers

    Australian School of Advanced Medicine, Macquarie University, Sydney, Australia Neurosurgery Department, Jikei University School of Medicine, Tokyo, Japan Centre for Advanced Biomedical Science, Tokyo, Japan - Email:

    Papers in Europe PMC
  8. 08
    Charvat F3 papers

    Australian School of Advanced Medicine, Macquarie University, Sydney, Australia Neurosurgery Department, Jikei University School of Medicine, Tokyo, Japan Centre for Advanced Biomedical Science, Tokyo, Japan - Email:

    Papers in Europe PMC
  9. 09
    Cognard C3 papers

    Hopital Maison Blanche - CHU Reims, Toulouse, Nancy, Dijon, France

    Papers in Europe PMC
  10. 10
    Kim B3 papers

    Department of Radiology, Severance Hospital, College of Medicine Yonsei University

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

low confidence · 36.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 2026-07-26

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.

"Spinal cord arteriovenous malformation, nidus type" OR "SCAVM"

Run this search on Europe PMC

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

"Spinal cord arteriovenous malformation, nidus type" OR "SCAVM"

Study-type breakdown: 0 interventional · 0 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
  • No Orphanet definition and no Mondo IDs — likely taxonomy scaffolding; confidence capped at low

Ingested 2026-07-27T21:08:09.310Z