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ORPHA:93276

Polyostotic fibrous dysplasia

low confidenceSubtype of disorder

Publications

1,326

Trials

4

Interventional, condition-specific

Researchers

1,000

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 (2)

PFD · polyostotic 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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    1,326 matched papers (459 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 trialPresent

    4 matched on ClinicalTrials.gov

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

3

Drugs / clinical candidates · MONDO_0008274

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,326

1,326 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.

1,326 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).

459 in the last 10 years · low confidence

Phrase hits: 1,319 · MeSH hits: 13

Open Europe PMC search

Who's working on it?

1,000

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
    Farsetti P6 papers · 2023

    Department of Orthopaedic Surgery, University of Rome "Tor Vergata" Italy.

    Papers in Europe PMC
  2. 02
    De Maio F5 papers · 2023

    Department of Orthopaedic Surgery, University of Rome "Tor Vergata" Italy.

    Papers in Europe PMC
  3. 03
    Gorgolini G5 papers · 2023

    Department of Orthopaedic Surgery, University of Rome "Tor Vergata" Italy.

    Papers in Europe PMC
  4. 04
    Ippolito E4 papers · 2023

    Department of Orthopaedic Surgery, University of Rome "Tor Vergata" Italy.

    Papers in Europe PMC
  5. 05
    Wang Y4 papers · 2024

    From the Department of Nuclear Medicine, The Affiliated Hospital of Southwest Medical University/Nuclear Medicine and Molecular Imaging Key Laboratory of Sichuan Province; and Academician (Expert) Workstation of Sichuan Province, Luzhou, Sichuan, China.

    Papers in Europe PMC
  6. 06
    Caterini A3 papers · 2023

    Department of Clinical Science and Translational Medicine, Section of Orthopaedics and Traumatology University of Rome "Tor Vergata", Italy.

    Papers in Europe PMC
  7. 07
    Caterini R3 papers · 2023

    Department of Orthopaedic Surgery, University of Rome "Tor Vergata" Italy.

    Papers in Europe PMC
  8. 08
    Efremov K3 papers · 2022

    Department of Orthopaedic Surgery, University of Rome "Tor Vergata" Italy.

    Papers in Europe PMC
  9. 09
    Liu L3 papers · 2026

    Department of Oral Pathology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China; College of Stomatology, Shanghai Jiao Tong University, National Clinical Research Center for Oral Disease, Shanghai 200011, China; Shanghai Key Laboratory of Stomatology & Shanghai Research Institute of Stomatology, Shanghai 200011, China.

    Papers in Europe PMC
  10. 10
    Agrawal K2 papers · 2023

    Radiology Department, Watford General Hospital, Vicarage Road, Watford WD18 0HB, United Kingdom.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; none in our sample are currently recruiting. 12 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

4 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 88.1th percentile).

low confidence · 88.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: fibrous dysplasia

12

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

Observational and natural-history studies

3 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 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 Polyostotic 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.

"Polyostotic fibrous dysplasia" OR "polyostotic fibrous dysplasia of bone" OR "polyostotic fibrous dysplasia of the bone"

Run this search on Europe PMC

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

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

"Polyostotic fibrous dysplasia" OR "polyostotic fibrous dysplasia of bone" OR "polyostotic fibrous dysplasia of the bone" OR "Fibrous Dysplasia, Polyostotic"

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: 4 interventional · 3 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

Synonyms dropped by stoplist: PFD

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
  • Publication count (1326) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T04:10:24.272Z