ORPHA:2380
Legg-Calvé-Perthes disease
Also known as: Aseptic necrosis of the capital femoral epiphysis · Osteochondrosis of the capital femoral epiphysis · Perthes disease
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
5,447
Trials
6
Interventional, condition-specific
Researchers
874
Distinct authors in sample
Gene link
COL2A1
Strong
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007885
- MeSH:D007873
- OMIM:150600
- UMLS:C1442965
- NCIT:C34766
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — COL2A1
- LiteraturePresent
5,447 matched papers (1,952 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
5,447
5,447 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=5449) is 41.
5,447 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
1,952 in the last 10 years · low confidence
Phrase hits: 5,447 · MeSH hits: 0
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.
- 01
- 02Laine JC6 papers · 2026
Gillette Children's Specialty Healthcare, St. Paul, Minnesota, USA.
Papers in Europe PMC - 03Reyes-Maldonado E6 papers · 2026
Escuela Nacional de Ciencias Biológicas, Instituto Politécnico Nacional, Ciudad de México, México.
Papers in Europe PMC - 04Lee J5 papers · 2026
University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Papers in Europe PMC - 05Hagino T4 papers · 2025
Department of Orthopaedic Surgery, National Hospital Organization (NHO) Kofu National Hospital, Kofu, JPN.
Papers in Europe PMC - 06Hailer YD4 papers · 2026
Section of Orthopaedics, Department of Surgical Sciences, Uppsala University, Sweden.
Papers in Europe PMC - 07Hernández-Zamora E4 papers · 2026
Medicina Genómica, Instituto Nacional de Rehabilitación, Ciudad de México, México.
Papers in Europe PMC - 08Jiang 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 - 09
- 10Johnson 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 27 July 2026
6 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89th percentile).
low confidence · 89th 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.
- NCT07122323·ENROLLING BY INVITATION·Robotic Arm-assisted THA Vs. Conventional THA in Legg-Calvé-Perthes Disease
Conditions: Legg-Calvé-Perthes Disease·Matched via name phrase
- NCT06823089·RECRUITING·Early Feasibility Study of Cartilage Defect Repair
Conditions: Osteoarthritis, Hip · Femoroacetabular Impingement · Osteonecrosis · Legg-Calvé-Perthes Disease·Matched via name phrase
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
- NCT02040714·ENROLLING BY INVITATION·Multicenter Prospective Cohort Study on Current Treatments of Legg-Calvé-Perthes Disease
Conditions: Legg Calve Perthes Disease·Matched via name phrase
- NCT05734651·RECRUITING·PROMIS Evaluation Study
Conditions: Hip Arthropathy · Osteoarthritis, Hip · Perthes Disease · Osteonecrosis·Matched via name phrase
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
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.
"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"
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" OR "COL2A1"
Recall-expansion terms: COL2A1
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: suspect — strategies attempted: phrase, recall-expansion; 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 (5447) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-26T20:02:15.513Z