ORPHA:564003
Osteochondrosis of the metatarsal bone
Also known as: Avascular necrosis of the metatarsal bone · Freiberg disease · Freiberg infraction
Publications
221
58.3th percentile
Trials
0
Interventional, condition-specific
Researchers
718
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare bone disease characterized by avascular necrosis of a metatarsal head, most commonly involving the second, but also the third or fourth, metatarsal. Patients may present with pain on weight-bearing, swelling, and tenderness. Radiological features include widening of the metatarsophalangeal joint space and flattening of the affected metatarsal head, at later stages metatarsal head sclerosis, cortical thickening, and intra-articular loose bodies. The condition can be bilateral in some cases and shows a significant predilection for females in the second or third decade of life.
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:0023188
- MeSH:C535636
- UMLS:C0264099
Additional Mondo synonyms (1)
Freiberg's 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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
221 matched papers (109 in last 10 years) Source
- Phenotype characterisedPresent
19 HPO annotations (e.g. Joint stiffness; Arthralgia; Progressive joint destruction) Source
- 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 trialPartial
None under the specific name; 4 for broader category osteochondrosis
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)
19
Associated phenotypes · MONDO:0023188
- Joint stiffness
- Arthralgia
- Progressive joint destruction
- Flattened metatarsal heads
- Abnormal metatarsal epiphysis morphology
Showing 5 of 19 — 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?
221
221 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.
221 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).
109 in the last 10 years · high confidence · 58.3th percentile (publications denominator)
Phrase hits: 221 · MeSH hits: 3
Who's working on it?
718
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.
- 01
- 02Lui TH4 papers · 2019
Department of Orthopaedics and Traumatology, North District Hospital, 9 Po Kin Road, Sheung Shui, NT, Hong Kong SAR, China. luithderek@yahoo.co.uk
Papers in Europe PMC - 03Rehm A3 papers · 2026
Department of Paediatric Orthopaedics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom. Electronic address: leoreporting@yahoo.co.uk.
Papers in Europe PMC - 04Yoshimura I3 papers · 2026
Department of Orthopaedic Surgery, Fukuoka University School of Medicine, 7-45-1 Nanakuma, Jonan-ku, Fukuoka, 814-0180, Japan.
Papers in Europe PMC - 05Andrews NA2 papers · 2021
Department of Orthopaedic Surgery, University of Alabama at Birmingham, Birmingham, AL, USA.
Papers in Europe PMC - 06Ashby E2 papers · 2026
Department of Paediatric Orthopaedics, Cambridge University Hospitals NHS Foundation Trust, Cambridge.
Papers in Europe PMC - 07Baek GH2 papers · 2007Papers in Europe PMC
- 08Ball S2 papers · 2026
School of Health Sciences and Nursing, Macquarie University, Sydney, Australia.
Papers in Europe PMC - 09Brittberg M2 papers · 2024
Cartilage Research Unit, University of Gothenburg, Region Halland Orthopaedics, Varberg Hospital, S-43237, Varberg, Sweden.
Papers in Europe PMC - 10Chung MS2 papers · 2007Papers 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). 4 trials are registered for osteochondrosis, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
4 interventional trials matched osteochondrosis, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: osteochondrosis
4
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).
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 Osteochondrosis of the metatarsal bone — 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.
"Osteochondrosis of the metatarsal bone" OR "Osteochondrosis of metatarsal bone" OR "Avascular necrosis of the metatarsal bone" OR "Avascular necrosis of metatarsal bone" OR "Freiberg disease" OR "Freiberg infraction" OR "Freiberg's disease"
MeSH descriptor terms unioned into the query: Freiberg's disease
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Osteochondrosis of the metatarsal bone" OR "Osteochondrosis of metatarsal bone" OR "Avascular necrosis of the metatarsal bone" OR "Avascular necrosis of metatarsal bone" OR "Freiberg disease" OR "Freiberg infraction" OR "Freiberg's disease"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"osteochondrosis"
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
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 2026-07-27T18:23:22.470Z