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ORPHA:2764

Osteochondritis dissecans

medium confidenceDisorder

Also known as: König disease

Publications

15,421

97th percentile

Trials

15

Interventional, condition-specific

Researchers

925

Distinct authors in sample

Gene link

ACAN

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Osteochondritis dissecans (OCD) is a rare bone disease characterized by an acquired necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis.

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)

Koenig disease · Konig disease · OD · osteochondritis dissecans · osteochondritis dissecans (disease)

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

    Definitive — ACAN

  2. LiteraturePresent

    15,421 matched papers (10,081 in last 10 years) Source

  3. Phenotype characterisedPresent

    18 HPO annotations (e.g. Limitation of joint mobility; Joint swelling; Abnormality of the knee) 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

    15 matched on ClinicalTrials.gov (3 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 (ACAN).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

18

Associated phenotypes · MONDO:0017178

  • Limitation of joint mobility
  • Joint swelling
  • Abnormality of the knee
  • Arthralgia
  • Limited elbow extension

Showing 5 of 18 — 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)

1 associated chemical. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Chlorhexidine · marker/mechanism

MyDisease.info · MONDO:0017178

Literature

Is anyone studying this?

15,421

15,421 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.

15,421 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).

10,081 in the last 10 years · medium confidence · 97th percentile (publications denominator)

Phrase hits: 5,395 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

925

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
    Ganley TJ9 papers · 2026

    The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

    Papers in Europe PMC
  2. 02
    Shea KG9 papers · 2026

    Stanford School of Medicine, Stanford, California.

    Papers in Europe PMC
  3. 03
    Fabricant PD8 papers · 2026

    Hospital for Special Surgery, New York, New York.

    Papers in Europe PMC
  4. 04
    Ellis HB Jr7 papers · 2026

    Texas Scottish Rite Hospital for Children, Dallas, Texas.

    Papers in Europe PMC
  5. 05
    Nguyen JC7 papers · 2026

    Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

    Papers in Europe PMC
  6. 06
    Wilson P7 papers · 2026

    Texas Scottish Rite Hospital for Children, Dallas, Texas.

    Papers in Europe PMC
  7. 07
    Tompkins MA6 papers · 2026

    Gillette Children's Specialty Healthcare, University of Minnesota, and TRIA Orthopaedic Center, Minneapolis, Minnesota.

    Papers in Europe PMC
  8. 08
    Bram JT5 papers · 2026

    Hospital for Special Surgery, New York, New York, USA.

    Papers in Europe PMC
  9. 09
    Green DW5 papers · 2026

    Hospital for Special Surgery, New York, New York.

    Papers in Europe PMC
  10. 10
    An SJ4 papers · 2026

    Department of Intelligent System Engineering, Cheju Halla University, Jeju 63092, Korea.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

15

interventional trials for this specific condition

15 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

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

15 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 94th percentile).

medium confidence · 94th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

13 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 6 · after dedupe 6 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 6 · 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 (6)

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 Osteochondritis dissecans — 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.

("Osteochondritis dissecans" OR "König disease" OR "Koenig disease" OR "Konig disease" OR "osteochondritis dissecans (disease)") OR ("ACAN" OR "ACAN syndrome" OR "ACAN-related")

Run this search on Europe PMC

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

"Osteochondritis dissecans" OR "König disease" OR "Koenig disease" OR "Konig disease" OR "osteochondritis dissecans (disease)"

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: 15 interventional · 13 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

Synonyms dropped by stoplist: OD

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 2026-07-26T21:06:42.561Z