ORPHA:166087
Von Willebrand disease type 2B
Publications
339
68.2th percentile
Trials
2
Interventional, condition-specific
Researchers
481
Distinct authors in sample
Gene link
VWF
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with increased affinity of the Willebrand factor (VWF) for platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and VWF from the plasma. The disease manifests as mucocutaneous bleeding (menorrhagia, epistaxis, gastrointestinal hemorrhage, etc.).
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0015629
- UMLS:C1282971
- NCIT:C131687
Additional Mondo synonyms (2)
von Willebrand disease type 2B · von Willebrand disease, type 2B
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.
- Gene identifiedPresent
Definitive — VWF
- LiteraturePresent
339 matched papers (201 in last 10 years) Source
- Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPresent
2 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: Definitive.
Phenotypes (Monarch / HPO)
None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”
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.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
339
339 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=3967) is 59.
339 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).
201 in the last 10 years · high confidence · 68.2th percentile (publications denominator)
Phrase hits: 95 · MeSH hits: 0
Who's working on it?
481
Distinct author names in 95 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.
- 01Denis CV9 papers · 2025
INSERM U770, Le Kremlin Bicêtre, France. Université Paris-Sud, Le Kremlin Bicêtre, France. Service Hématologie Biologique, Assistance Publique–Hôpitaux de Paris, Le Kemlin Bicêtre, France.
Papers in Europe PMC - 02Lenting PJ8 papers · 2016
INSERM U770, Le Kremlin Bicêtre, France. Université Paris-Sud, Le Kremlin Bicêtre, France. Service Hématologie Biologique, Assistance Publique–Hôpitaux de Paris, Le Kemlin Bicêtre, France.
Papers in Europe PMC - 03de Groot PG7 papers · 2019
Radboud Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, The Netherlands.
Papers in Europe PMC - 04Adam F5 papers · 2022
INSERM U770, Le Kremlin Bicêtre, France. Université Paris-Sud, Le Kremlin Bicêtre, France. Service Hématologie Biologique, Assistance Publique–Hôpitaux de Paris, Le Kemlin Bicêtre, France.
Papers in Europe PMC - 05Casari C5 papers · 2025
INSERM U770, Le Kremlin Bicêtre, France. Université Paris-Sud, Le Kremlin Bicêtre, France. Service Hématologie Biologique, Assistance Publique–Hôpitaux de Paris, Le Kemlin Bicêtre, France.
Papers in Europe PMC - 06Christophe OD5 papers · 2016
INSERM U770, Le Kremlin Bicêtre, France. Université Paris-Sud, Le Kremlin Bicêtre, France. Service Hématologie Biologique, Assistance Publique–Hôpitaux de Paris, Le Kemlin Bicêtre, France.
Papers in Europe PMC - 07Kauskot A5 papers · 2022
INSERM U770, Le Kremlin Bicêtre, France. Université Paris-Sud, Le Kremlin Bicêtre, France. Service Hématologie Biologique, Assistance Publique–Hôpitaux de Paris, Le Kemlin Bicêtre, France.
Papers in Europe PMC - 08Legendre P5 papers · 2022
Institut National de la Santé et de la Recherche Médicale, UMR_S 1176, Univ. Paris-Sud, Université Paris-Saclay, 94276 Le Kremlin-Bicêtre, France.
Papers in Europe PMC - 09Baronciani L4 papers · 2010
Angelo Bianchi Bonomi Hemophilia Thrombosis Center, Department of Medicine and Medical Specialities, IRCCS Maggiore Hospital, Mangiagalli, Regina Elena Foundation and University of Milan, Milan, Italy
Papers in Europe PMC - 10Bryckaert M4 papers · 2016
INSERM U770, Le Kremlin Bicêtre, France. Université Paris-Sud, Le Kremlin Bicêtre, France. Service Hématologie Biologique, Assistance Publique–Hôpitaux de Paris, Le Kemlin Bicêtre, France.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 11 September 2026 · last trial check 28 July 2026
2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).
high confidence · 84.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 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.
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 7 · after dedupe 7 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 7 · 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 (7)
- ctis·2025-524967-19-00·Authorised·HMBeacon: A Phase 2, Randomized, Double-blind Study of the Safety, Tolerability, Efficacy, and Pharmacodynamics of Multiple Dose ALN-6400 in Female Patients with Von Willebrand Disease (VWD) and Heavy Menstrual Bleeding (HMB)
skipped — LLM skipped (--skip-llm)
- ctis·2025-522056-10-01·Authorised, ongoing·A Prospective, Multicenter, Open-label, Phase 3 Clinical Study to Evaluate the Efficacy and Safety of Prophylactic VGA039 in Adolescent and Adult Patients with von Willebrand Disease (VIVID-6)
skipped — LLM skipped (--skip-llm)
- ctis·2024-515622-80-00·Authorised, recruiting·A Phase III, Multicenter, Open-Label Study to Evaluate the Efficacy, Safety, Pharmacokinetics, and Pharmacodynamics of Emicizumab Prophylaxis in Patients with Type 3 Von Willebrand Disease
skipped — LLM skipped (--skip-llm)
- ctis·2024-518294-34-01·Authorised, ongoing·Efficacy and Safety of BT200 (rondaptivon pegol) in Patients with Type 2B von Willebrand disease
skipped — LLM skipped (--skip-llm)
- ctis·2023-509877-22-00·Authorised, recruiting·A Phase 3, Prospective, Open-label, Uncontrolled, Multicenter Study on Efficacy and Safety of Prophylaxis with Vonicog Alfa (rVWF) in Children Diagnosed With Severe von Willebrand disease.
skipped — LLM skipped (--skip-llm)
- ctis·2023-509769-18-00·Cancelled·A Phase 3, Prospective, Multicenter, Uncontrolled, Open-Label Clinical Study to Determine the Efficacy, Safety, and Tolerability of rVWF with or without ADVATE in the Treatment and Control of Bleeding Episodes, the Efficacy and Safety of rVWF in Elective and Emergency Surgeries, and the Pharmacokinetics (PK) of rVWF in Children Diagnosed with Severe von Willebrand Disease
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN11217735·No longer recruiting·Clinical study to assess how well wilate works in the regular treatment of young children with severe von Willebrand disease
skipped — LLM skipped (--skip-llm)
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 2B — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This 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 2B" OR "von Willebrand disease, type 2B") OR ("VWF syndrome" OR "VWF-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Von Willebrand disease type 2B" OR "von Willebrand disease, type 2B"
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: 2 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
Ingested 2026-07-27T08:20:11.270Z