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ORPHA:166078

Von Willebrand disease type 1

medium confidenceSubtype of disorder

Publications

629

78.8th percentile

Trials

1

Interventional, condition-specific

Researchers

1,005

Distinct authors in sample

Gene link

VWF

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a partial, quantitative plasmatic deficiency of an otherwise structurally and functionally normal von Willebrand factor (VWF).

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 (5)

VWD1 · von Willebrand disease 1 · von Willebrand disease type 1 · von Willebrand's disease type 1 · von willebrand's disease 1

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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — VWF

  2. LiteraturePresent

    629 matched papers (350 in last 10 years) Source

  3. Phenotype characterisedPresent

    16 HPO annotations (e.g. Prolonged bleeding time; Bruising susceptibility; Persistent bleeding after trauma) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

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: Strong.

Phenotypes (Monarch / HPO)

16

Associated phenotypes · MONDO:0008668

  • Prolonged bleeding time
  • Bruising susceptibility
  • Persistent bleeding after trauma
  • Prolonged bleeding after surgery
  • Epistaxis

Showing 5 of 16 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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

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?

629

629 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=3967) is 59.

629 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).

350 in the last 10 years · medium confidence · 78.8th percentile (publications denominator)

Phrase hits: 388 · MeSH hits: 8

Open Europe PMC search

Who's working on it?

1,005

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
    Peyvandi F7 papers · 2023

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

    Papers in Europe PMC
  2. 02
    Baronciani L6 papers · 2023

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

    Papers in Europe PMC
  3. 03
    Cnossen MH6 papers · 2024

    Department of Pediatric Hematology, Erasmus University Medical Center/Sophia Children's Hospital, Rotterdam, The Netherlands.

    Papers in Europe PMC
  4. 04
    Leebeek FWG6 papers · 2025

    Department of Haematology, Erasmus University Medical Center-Erasmus MC, Rotterdam, The Netherlands.

    Papers in Europe PMC
  5. 05
    Budde U5 papers · 2020

    6 Central Laboratory, Asklepios Kliniken, Hamburg, Germany.

    Papers in Europe PMC
  6. 06
    Castaman G5 papers · 2020

    Department of Cellular Therapy and Hematology, San Bortolo Hospital, Vicenza, Italy. castaman@hemato.ven.it

    Papers in Europe PMC
  7. 07
    Eikenboom J5 papers · 2025

    Department of Thrombosis and Hemostasis, Einthoven Laboratory for Experimental Vascular Medicine, Leiden University Medical Center, Leiden, the Netherlands.

    Papers in Europe PMC
  8. 08
    Haberichter SL5 papers · 2026

    Department of Pediatrics, Division of Hematology/Oncology, Medical College of Wisconsin.

    Papers in Europe PMC
  9. 09
    Lavin M5 papers · 2026

    Irish Centre for Vascular Biology, School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland.

    Papers in Europe PMC
  10. 10
    Lethagen S5 papers · 2018

    National Haemophilia Center, University Hospital, Rigshospitalet, Copenhagen, Denmark.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

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

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

medium confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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.

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 41 · after dedupe 40 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 40 · dropped 0 · fetched 2026-07-30

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 (40)

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 type 1 — 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 type 1" OR "von Willebrand disease 1" OR "von Willebrand's disease type 1" OR "von willebrand's disease 1") OR (MESH:"von Willebrand Disease, Type 1") OR ("VWF syndrome" OR "VWF-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: von Willebrand Disease, Type 1

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

"Von Willebrand disease type 1" OR "von Willebrand disease 1" OR "von Willebrand's disease type 1" OR "von willebrand's disease 1" OR "von Willebrand Disease, Type 1"

Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: VWD1

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 2026-07-27T08:19:37.581Z