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ORPHA:93277

Monostotic fibrous dysplasia

high confidenceSubtype of disorder

Also known as: Jaffe-Lichtenstein disease

Publications

599

66.1th percentile

Trials

0

Interventional, condition-specific

Researchers

938

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

monostotic fibrous dysplasia · monostotic fibrous dysplasia (disease) · monostotic fibrous dysplasia of bone

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.”

2/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    599 matched papers (177 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  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 trialPartial

    None under the specific name; 16 for broader category fibrous dysplasia

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)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

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?

599

599 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

599 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).

177 in the last 10 years · high confidence · 66.1th percentile (publications denominator)

Phrase hits: 595 · MeSH hits: 7

Open Europe PMC search

Who's working on it?

938

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
    Appelman-Dijkstra NM7 papers · 2025

    Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Centre for Bone Quality, Leiden, The Netherlands.

    Papers in Europe PMC
  2. 02
    Yamamoto N4 papers · 2022

    Department of Orthopaedic Surgery, Kanazawa University Graduate School of Medical Sciences, 13-1 Takara-machi, Kanazawa, 920-8640, Ishikawa, Japan. norinori@med.kanazawa-u.ac.jp.

    Papers in Europe PMC
  3. 03
    Zhang C4 papers · 2025

    Department of Oral and Maxillofacial Head and Neck Surgery, Shanghai 9th People's Hospital, Shanghai Jiao-Tong University School of Medicine, Shanghai 200011, P.R. China.

    Papers in Europe PMC
  4. 04
    de Witte PB3 papers · 2025

    Department of Orthopaedics, Leiden University Medical Center, Leiden, The Netherlands.

    Papers in Europe PMC
  5. 05
    Hayashi K3 papers · 2022

    Department of Orthopaedic Surgery, Kanazawa University Graduate School of Medical Sciences, 13-1 Takara-machi, Kanazawa, 920-8640, Ishikawa, Japan.

    Papers in Europe PMC
  6. 06
    Miwa S3 papers · 2022

    Department of Orthopaedic Surgery, Kanazawa University Graduate School of Medical Sciences, 13-1 Takara-machi, Kanazawa, 920-8640, Ishikawa, Japan.

    Papers in Europe PMC
  7. 07
    Takeuchi A3 papers · 2022

    Department of Orthopaedic Surgery, Kanazawa University Graduate School of Medical Sciences, 13-1 Takara-machi, Kanazawa, 920-8640, Ishikawa, Japan.

    Papers in Europe PMC
  8. 08
    Tsuchiya H3 papers · 2022

    Department of Orthopaedic Surgery, Kanazawa University Graduate School of Medical Sciences, 13-1 Takara-machi, Kanazawa, 920-8640, Ishikawa, Japan.

    Papers in Europe PMC
  9. 09
    Abrahamsen B2 papers · 2024

    Department of Medicine, Holbæk Hospital, Denmark and OPEN, Institute of Clinical Research, University of Southern Denmark, Odense, Denmark.

    Papers in Europe PMC
  10. 10
    Agarwal N2 papers · 2014

    Department of Oral Medicine and Radiology, Kothiwal Dental College and Research Centre, Moradabad, Uttar Pradesh, India.

    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). 16 trials are registered for fibrous dysplasia, 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.

16 interventional trials matched fibrous dysplasia, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: fibrous dysplasia

16

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.

Recruiting under the broader category

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 Monostotic fibrous dysplasia — 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.

"Monostotic fibrous dysplasia" OR "Jaffe-Lichtenstein disease" OR "monostotic fibrous dysplasia (disease)" OR "monostotic fibrous dysplasia of bone" OR "monostotic fibrous dysplasia of the bone"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Fibrous Dysplasia, Monostotic

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

"Monostotic fibrous dysplasia" OR "Jaffe-Lichtenstein disease" OR "monostotic fibrous dysplasia (disease)" OR "monostotic fibrous dysplasia of bone" OR "monostotic fibrous dysplasia of the bone" OR "Fibrous Dysplasia, Monostotic"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"fibrous dysplasia"

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 2026-07-27T04:10:36.350Z