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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

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

2,939

95.2th percentile

Trials

9

Interventional, condition-specific

Researchers

1,169

Distinct authors in sample

Gene link

COL3A1

Definitive

Readiness

3/6

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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — COL3A1

  2. LiteraturePresent

    2,939 matched papers (1,745 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 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)

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?

2,939

2,939 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.

2,939 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).

1,745 in the last 10 years · medium confidence · 95.2th 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 27 July 2026

9 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 91.2th percentile).

medium confidence · 91.2th 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

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.

"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"

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" OR "COL3A1"

Recall-expansion terms: COL3A1

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: suspect — strategies attempted: phrase, recall-expansion; 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