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ORPHA:898

Wagner disease

low confidenceDisorder

Also known as: Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy · Vitreoretinal degeneration, Wagner type · Wagner syndrome

Publications

7,352

Trials

0

Interventional, condition-specific

Researchers

1,232

Distinct authors in sample

Gene link

VCAN

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Wagner disease is a rare vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

dominant hyaloideoretinal dystrophy of Wagner · vitreoretinal degeneration, Wagner type

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

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Definitive — VCAN

  2. LiteraturePresent

    7,352 matched papers (5,725 in last 10 years) Source

  3. Phenotype characterisedPresent

    25 HPO annotations (e.g. Chorioretinal atrophy; Visual loss; Retinal detachment) 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 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?

Yes — we know a specific gene responsible (VCAN).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

25

Associated phenotypes · MONDO:0007740

  • Chorioretinal atrophy
  • Visual loss
  • Retinal detachment
  • Myopia
  • Pigmentary retinopathy

Showing 5 of 25 — 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?

7,352

7,352 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.

7,352 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).

5,725 in the last 10 years · low confidence

Phrase hits: 250 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,232

Distinct author names in 200 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.

  1. 01
    Snead MP8 papers · 2026

    Department of Ophthalmology, Addenbrooke's Hospital, Cambridge, UK.

    Papers in Europe PMC
  2. 02
    Rothschild PR7 papers · 2022

    AP-HP, Groupe Hospitalier Cochin-Hôtel-Dieu, Service d'ophtalmologie, Université Paris Descartes, Sorbonne Paris Cité, Paris, France ; INSERM, Centre de Recherche des Cordeliers, Paris, France.

    Papers in Europe PMC
  3. 03
    Edwards AO6 papers · 2008

    Department of Ophthalmology, Mayo Clinic, Rochester, MN 55905, USA. edwardslab@mayo.edu

    Papers in Europe PMC
  4. 04
    Richards AJ6 papers · 2026

    MRC Connective Tissue Genetics Group, University of Cambridge, Department of Pathology, Cambridge CB2 1QP, UK.

    Papers in Europe PMC
  5. 05
    Brézin AP5 papers · 2017

    Assistance Publique-Hôpitaux de Paris, Groupe Hospitalier Cochin-Hôtel-Dieu, Service d'ophtalmologie, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.

    Papers in Europe PMC
  6. 06
    Valleix S5 papers · 2017

    Institut National de la Santé et de la Recherche Médicale, Centre de Recherche des Cordeliers, Unité Mixte de Recherche 1138, équipe 17, Paris, France; Université Paris-Descartes, Sorbonne Paris Cité, Assistance Publique-Hôpitaux de Paris, Laboratoire de Biologie et Génétique Moléculaire, Hôpital Cochin, Paris, France.

    Papers in Europe PMC
  7. 07
    Young TL5 papers · 2017

    Department of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin, United States.

    Papers in Europe PMC
  8. 08
    Black GC4 papers · 2022

    University Department of Medical Genetics and Regional Genetic Service, St. Mary's Hospital, Manchester, England. gblack@fs1.cmht.nwest.nhs.uk

    Papers in Europe PMC
  9. 09
    Chen X4 papers · 2021

    Department of Ophthalmology, The First Affiliated Hospital of Nanjing Medical University, State Key Laboratory of Reproductive Medicine, Nanjing, China.

    Papers in Europe PMC
  10. 10
    Li H4 papers · 2025

    BGI-Anhui Clinical Laboratory, BGI-Shenzhen, 236000, Fuyang, China.

    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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

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.

low 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.

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 20 · after dedupe 20 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 20 · 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 (20)

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 Wagner 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.

("Wagner disease" OR "Dominant hyaloideoretinal dystrophy of Wagner" OR "Dominant hyaloideoretinal dystrophy of the Wagner" OR "VCAN-related vitreoretinopathy" OR "Vitreoretinal degeneration, Wagner type" OR "Wagner syndrome") OR ("VCAN" OR "VCAN syndrome" OR "VCAN-related")

Run this search on Europe PMC

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

"Wagner disease" OR "Dominant hyaloideoretinal dystrophy of Wagner" OR "Dominant hyaloideoretinal dystrophy of the Wagner" OR "VCAN-related vitreoretinopathy" OR "Vitreoretinal degeneration, Wagner type" OR "Wagner syndrome"

Study-type breakdown: 0 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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (7352) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T15:49:23.984Z