RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:903

Von Willebrand disease

high confidenceDisorder

Also known as: Hereditary pseudohaemophilia · Hereditary von Willebrand disease

Publications

8,441

94.2th percentile

Trials

47

Interventional, condition-specific

Researchers

1,004

Distinct authors in sample

Gene link

VWF

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare, inherited bleeding disorder characterized by defective platelet adhesion and secondary coagulation defect that manifests as abnormal bleeding of variable severity occurring either spontaneously or in association with an invasive procedure. Three main subtypes are defined based on the type of von Willebrand factor defect: partial (type 1) or total (type 3) deficiency, and qualitative/functional anomalies (type 2).

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

congenital von willebrand's disease · hereditary von Willebrand disease · hereditary von Willebrand disease (hereditary or acquired)

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — VWF

  2. LiteraturePresent

    8,441 matched papers (4,530 in last 10 years) Source

  3. Phenotype characterisedPresent

    56 HPO annotations (e.g. Abnormality of coagulation; Impaired ristocetin cofactor assay activity; Petechiae) Source

  4. Animal modelPresent

    8 genotype models (Mus musculus) Source

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. recombinant human von Willebrand factor Source

  6. Interventional trialPresent

    47 matched on ClinicalTrials.gov (11 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 (VWF).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

56

Associated phenotypes · MONDO:0019565

  • Abnormality of coagulation
  • Impaired ristocetin cofactor assay activity
  • Petechiae
  • Gastrointestinal hemorrhage
  • Deviation of finger

Showing 5 of 56 — open Monarch for the full list.

Animal models (Monarch / Alliance)

8

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)

1

Designation · no FDA orphan-indication approval yet

  • EMA recombinant human von Willebrand factorTreatment of von Willebrand disease · 26/11/2010 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

8,441

8,441 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.

8,441 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).

4,530 in the last 10 years · high confidence · 94.2th percentile (publications denominator)

Phrase hits: 8,299 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,004

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
    Seidizadeh O11 papers · 2026

    Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy.

    Papers in Europe PMC
  2. 02
    Peyvandi F10 papers · 2026

    IRCCS Ca' Granda Ospedale Maggiore Policlinico Foundation, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milan; Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.

    Papers in Europe PMC
  3. 03
    Casari C6 papers · 2026

    Université Paris-Saclay, INSERM, Hémostase Inflammation Thrombose HITh U1176, Le Kremlin-Bicêtre, France.

    Papers in Europe PMC
  4. 04
    Connell NT6 papers · 2026

    Division of Hematology, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA.

    Papers in Europe PMC
  5. 05
    Mannucci PM6 papers · 2026

    Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy.

    Papers in Europe PMC
  6. 06
    Flood VH5 papers · 2026

    Department of Pediatrics, Medical College of Wisconsin, Versiti Blood Research Institute, Milwaukee, WI.

    Papers in Europe PMC
  7. 07
    Sidonio RF Jr5 papers · 2026

    Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia.

    Papers in Europe PMC
  8. 08
    Susen S5 papers · 2026

    Department of Haemostasis and Transfusion, Lille University Hospital, Lille, France.

    Papers in Europe PMC
  9. 09
    Abdul-Kadir R4 papers · 2026

    The Royal Free NHS Foundation Hospital Institute for Women's Health, University College of London, London, UK.

    Papers in Europe PMC
  10. 10
    Baronciani L4 papers · 2026

    Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

47

interventional trials for this specific condition

47 interventional trials matched this specific condition name; 11 currently recruiting in our sample.

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

47 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 97th percentile).

high confidence · 97th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

36 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 46 · after dedupe 45 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 45 · 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 (45)

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 Von Willebrand disease — 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.

("Von Willebrand disease" OR "Hereditary pseudohaemophilia" OR "Hereditary von Willebrand disease" OR "congenital von willebrand's disease" OR "hereditary von Willebrand disease (hereditary or acquired)") OR ("VWF syndrome" OR "VWF-related")

Run this search on Europe PMC

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

"Von Willebrand disease" OR "Hereditary pseudohaemophilia" OR "Hereditary von Willebrand disease" OR "congenital von willebrand's disease" OR "hereditary von Willebrand disease (hereditary or acquired)"

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: 47 interventional · 36 observational · 1 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

Ingested 2026-07-26T15:51:17.559Z