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ORPHA:2380

Legg-Calvé-Perthes disease

low confidenceDisorder

Also known as: Aseptic necrosis of the capital femoral epiphysis · Osteochondrosis of the capital femoral epiphysis · Perthes disease

Publications

40,607

Trials

6

Interventional, condition-specific

Researchers

874

Distinct authors in sample

Gene link

COL2A1

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare osteochondrosis characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (9)

Legg Calvé Perthes Disease · Legg-CALVE-Perthes disease · Legg-Calve-Perthes disease · Legg-Calve-Perthes symptom · Legg-Calve-Perthes syndrome · Legg-Perthes disease · Perthe's disease · aseptic necrosis of the capital femoral epiphysis · osteochondritis of the capital femoral epiphysis

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 — COL2A1

  2. LiteraturePresent

    40,607 matched papers (22,011 in last 10 years) Source

  3. Phenotype characterisedPresent

    12 HPO annotations (e.g. Abnormality of the dentition; Delayed skeletal maturation; Short stature) 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

    6 matched on ClinicalTrials.gov (2 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 (COL2A1).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

12

Associated phenotypes · MONDO:0007885

  • Abnormality of the dentition
  • Delayed skeletal maturation
  • Short stature
  • Joint dislocation
  • Arthralgia

Showing 5 of 12 — 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

1

Drugs / clinical candidates · MONDO_0007885

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

40,607

40,607 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.

40,607 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).

22,011 in the last 10 years · low confidence

Phrase hits: 5,447 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

874

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
    Kim HKW18 papers · 2026

    Center of Excellence in Hip, Scottish Rite for Children.

    Papers in Europe PMC
  2. 02
    Laine JC6 papers · 2026

    Gillette Children's Specialty Healthcare, St. Paul, Minnesota, USA.

    Papers in Europe PMC
  3. 03
    Reyes-Maldonado E6 papers · 2026

    Escuela Nacional de Ciencias Biológicas, Instituto Politécnico Nacional, Ciudad de México, México.

    Papers in Europe PMC
  4. 04
    Lee J5 papers · 2026

    University of Texas Southwestern Medical Center, Dallas, Texas, USA.

    Papers in Europe PMC
  5. 05
    Hagino T4 papers · 2025

    Department of Orthopaedic Surgery, National Hospital Organization (NHO) Kofu National Hospital, Kofu, JPN.

    Papers in Europe PMC
  6. 06
    Hailer YD4 papers · 2026

    Section of Orthopaedics, Department of Surgical Sciences, Uppsala University, Sweden.

    Papers in Europe PMC
  7. 07
    Hernández-Zamora E4 papers · 2026

    Medicina Genómica, Instituto Nacional de Rehabilitación, Ciudad de México, México.

    Papers in Europe PMC
  8. 08
    Jiang X4 papers · 2026

    Department of Orthopaedics, the First Affiliated Hospital of Nanchang University, Nanchang 330006, Jiangxi Province, PR China. Electronic address: jiangxiaohuaj103@163.com.

    Papers in Europe PMC
  9. 09
    Jo C4 papers · 2026

    Texas Scottish Rite for Children, Dallas, TX.

    Papers in Europe PMC
  10. 10
    Johnson LG4 papers · 2026

    School of Biomedical Engineering, University of British Columbia, Vancouver, BC, Canada.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

6

interventional trials for this specific condition

6 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

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

6 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.1th percentile).

low confidence · 90.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

9 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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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 (1)

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 Legg-Calvé-Perthes 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.

("Legg-Calvé-Perthes disease" OR "Aseptic necrosis of the capital femoral epiphysis" OR "Aseptic necrosis of capital femoral epiphysis" OR "Osteochondrosis of the capital femoral epiphysis" OR "Osteochondrosis of capital femoral epiphysis" OR "Perthes disease" OR "Legg Calvé Perthes Disease" OR "Legg-CALVE-Perthes disease" OR "Legg-Calve-Perthes symptom" OR "Legg-Calve-Perthes syndrome" OR "Legg-Perthes disease" OR "Perthe's disease" OR "osteochondritis of the capital femoral epiphysis" OR "osteochondritis of capital femoral epiphysis") OR ("COL2A1" OR "COL2A1 syndrome" OR "COL2A1-related")

Run this search on Europe PMC

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

"Legg-Calvé-Perthes disease" OR "Aseptic necrosis of the capital femoral epiphysis" OR "Aseptic necrosis of capital femoral epiphysis" OR "Osteochondrosis of the capital femoral epiphysis" OR "Osteochondrosis of capital femoral epiphysis" OR "Perthes disease" OR "Legg Calvé Perthes Disease" OR "Legg-CALVE-Perthes disease" OR "Legg-Calve-Perthes symptom" OR "Legg-Calve-Perthes syndrome" OR "Legg-Perthes disease" OR "Perthe's disease" OR "osteochondritis of the capital femoral epiphysis" OR "osteochondritis of capital femoral epiphysis"

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: 6 interventional · 9 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
  • Publication count (40607) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T20:02:15.513Z