ORPHA:166093
Von Willebrand disease type 2N
Publications
48
36th percentile
Trials
0
Interventional, condition-specific
Researchers
277
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (VWF) for factor VIII (FVIII). Abnormal bleeding manifestations are less frequent in this VWD subtype than in other forms of the disease. The disease manifests mainly as soft tissue bleeding (haematoma, post-operative bleeding, 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:0015631
- UMLS:C1282975
- NCIT:C131689
Additional Mondo synonyms (2)
von Willebrand disease Normandy variant · von Willebrand disease, type 2N
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
48 matched papers (20 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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.
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?
48
48 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.
48 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).
20 in the last 10 years · high confidence · 36th percentile (publications denominator)
Phrase hits: 48 · MeSH hits: 0
Who's working on it?
277
Distinct author names in 48 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Oldenburg J3 papers · 2022
Institute of Experimental Hematology and Transfusion Medicine, Medical Faculty, University of Bonn, University Hospital Bonn, Bonn, Germany.
Papers in Europe PMC - 02Amano K2 papers · 2017
Department of Laboratory Medicine Tokyo Medical University Tokyo Japan.
Papers in Europe PMC - 03Ay C2 papers · 2023
Division of Haematology and Haemostaseology, Department of Medicine I, Medical University of Vienna, Vienna, Austria.
Papers in Europe PMC - 04Bis JC2 papers · 2011Papers in Europe PMC
- 05Bovill EG2 papers · 2011Papers in Europe PMC
- 06Bowen DJ2 papers · 2002
Department of Haematology, University of Wales College of Medicine, Cardiff, UK. bowendj1@cf.ac.uk
Papers in Europe PMC - 07Cushman M2 papers · 2011Papers in Europe PMC
- 08Dehghan A2 papers · 2011Papers in Europe PMC
- 09Favaloro EJ2 papers · 2009
Department of Haematology, Institute of Clinical Pathology and Medical Research, Westmead Hospital, Westmead, New South Wales, Australia. emmanuel.favaloro@swahs.health.nsw.gov.au
Papers in Europe PMC - 10Feistritzer C2 papers · 2023
Department of Internal Medicine V-Haematology and Oncology, Medical University of Innsbruck, Innsbruck, Austria.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
high confidence · 38.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
Recruiting or not-yet-recruiting
- NCT06610201·RECRUITING·A Study of Bleeding and Treatment in Participants With Von Willebrand Disease
Conditions: Von Willebrand Disease (VWD) · Von Willebrand Disease (VWD), Type 1 · Von Willebrand Disease (VWD), Type 2 · Von Willebrand Disease (VWD), Type 3·Matched via name phrase
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 2N — 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 2N" OR "von Willebrand disease Normandy variant" OR "von Willebrand disease, type 2N"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Von Willebrand disease type 2N" OR "von Willebrand disease Normandy variant" OR "von Willebrand disease, type 2N"
Study-type breakdown: 0 interventional · 1 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 2026-07-27T08:20:26.111Z