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ORPHA:286

Vascular Ehlers-Danlos syndrome

medium confidenceDisorder

Also known as: Arterial-ecchymotic EDS · EDS IV · Ehlers-Danlos syndrome type 4 · Sack-Barabas syndrome · Vascular EDS · vEDS

Publications

19,963

98.1th percentile

Trials

9

Interventional, condition-specific

Researchers

1,169

Distinct authors in sample

Gene link

COL3A1

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic connective tissue disorder typically characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (5)

EDS type 4 · Ehlers-Danlos syndrome type IV · Ehlers-Danlos syndrome, type IV · Ehlers-Danlos syndrome, vascular type · sack-Barabas syndrome

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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — COL3A1

  2. LiteraturePresent

    19,963 matched papers (15,953 in last 10 years) Source

  3. Phenotype characterisedPresent

    147 HPO annotations (e.g. Dermal translucency; Cystocele; Hemothorax) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    9 matched on ClinicalTrials.gov (3 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?

Yes — we know a specific gene responsible (COL3A1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

147

Associated phenotypes · MONDO:0017314

  • Dermal translucency
  • Cystocele
  • Hemothorax
  • Foot acroosteolysis
  • Hypermobility of interphalangeal joints

Showing 5 of 147 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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

1

Drugs / clinical candidates · MONDO_0017314

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

19,963

19,963 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.

19,963 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).

15,953 in the last 10 years · medium confidence · 98.1th percentile (publications denominator)

Phrase hits: 2,939 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,169

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.

  1. 01
    Shalhub S7 papers · 2026

    Division of Vascular Surgery, Department of Surgery, University of Washington School of Medicine, Seattle, WA.

    Papers in Europe PMC
  2. 02
    Yamaguchi T7 papers · 2026

    Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.

    Papers in Europe PMC
  3. 03
    Colombi M6 papers · 2025

    Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25121 Brescia, Italy.

    Papers in Europe PMC
  4. 04
    Ritelli M6 papers · 2025

    Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25121 Brescia, Italy.

    Papers in Europe PMC
  5. 05
    Milewicz DM5 papers · 2025

    Division of Medical Genetics, Department of Internal Medicine, The University of Texas Health Science Center at Houston, Houston, Texas.

    Papers in Europe PMC
  6. 06
    Venturini M5 papers · 2025

    Division of Dermatology, Department of Clinical and Experimental Sciences, Spedali Civili University Hospital Brescia, 25121 Brescia, Italy.

    Papers in Europe PMC
  7. 07
    Buso G4 papers · 2025

    Department of Clinical and Experimental Sciences, Division of Internal Medicine, ASST Spedali Civili Brescia, University of Brescia, Brescia, Italy.

    Papers in Europe PMC
  8. 08
    Dietz HC4 papers · 2026

    Department of Genetic Medicine and.

    Papers in Europe PMC
  9. 09
    Ghali N4 papers · 2026

    National EDS Service London, London North West Healthcare NHS Trust, Harrow, London, UK.

    Papers in Europe PMC
  10. 10
    Kosho T4 papers · 2026

    Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

9

interventional trials for this specific condition

9 interventional trials matched this specific condition name; 3 currently recruiting in our sample. 34 trials are registered for Ehlers-Danlos syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 28 July 2026

9 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 92th percentile).

medium confidence · 92th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

9 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: Ehlers-Danlos syndrome

34

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Observational and natural-history studies

7 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

Open the complete matched search on ClinicalTrials.gov

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 9 · after dedupe 9 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 9 · dropped 0 · fetched 2026-07-29

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 (9)

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 Vascular Ehlers-Danlos syndrome — check Associations / patient organisations on that page.

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.

("Vascular Ehlers-Danlos syndrome" OR "Arterial-ecchymotic EDS" OR "EDS IV" OR "Ehlers-Danlos syndrome type 4" OR "Sack-Barabas syndrome" OR "Vascular EDS" OR "EDS type 4" OR "Ehlers-Danlos syndrome type IV" OR "Ehlers-Danlos syndrome, type IV" OR "Ehlers-Danlos syndrome, vascular type") OR ("COL3A1" OR "COL3A1 syndrome" OR "COL3A1-related")

Run this search on Europe PMC

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

"Vascular Ehlers-Danlos syndrome" OR "Arterial-ecchymotic EDS" OR "EDS IV" OR "Ehlers-Danlos syndrome type 4" OR "Sack-Barabas syndrome" OR "Vascular EDS" OR "EDS type 4" OR "Ehlers-Danlos syndrome type IV" OR "Ehlers-Danlos syndrome, type IV" OR "Ehlers-Danlos syndrome, vascular type"

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: 9 interventional · 7 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"Ehlers-Danlos syndrome"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: vEDS

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 2026-07-26T13:16:00.297Z