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ORPHA:342

Familial Mediterranean fever

medium confidenceDisorder

Also known as: Benign paroxysmal peritonitis · Benign recurrent polyserositis · FMF · Familial paroxysmal polyserositis · Periodic disease

Publications

11,142

97.7th percentile

Trials

30

Interventional, condition-specific

Researchers

1,017

Distinct authors in sample

Gene link

MEFV

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.

How rare: >1 / 1000

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

Fiebre mediterránea familiar · benign paroxysmal peritonitis · benign recurrent polyserositis · familial paroxysmal polyserositis · periodic 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

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

  1. Gene identifiedPresent

    Definitive — MEFV

  2. LiteraturePresent

    11,142 matched papers (5,476 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    30 matched on ClinicalTrials.gov (7 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 (MEFV).

GenCC classification: Definitive.

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?

11,142

11,142 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.

11,142 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).

5,476 in the last 10 years · medium confidence · 97.7th percentile (publications denominator)

Phrase hits: 11,142 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,017

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
    Ugurlu S8 papers · 2026

    Division of Rheumatology, Department of Internal Medicine, Cerrahpaşa Faculty of Medicine, İstanbul University-Cerrahpaşa, İstanbul, Türkiye.

    Papers in Europe PMC
  2. 02
    Özçelik E6 papers · 2026

    Division of Pediatric Rheumatology, Department of Pediatrics, University of Health Sciences, Ankara Bilkent City Hospital Ankara, Türkiye.

    Papers in Europe PMC
  3. 03
    Çelikel Acar B5 papers · 2026

    Division of Pediatric Rheumatology, Department of Pediatrics, University of Health Sciences, Ankara Bilkent City Hospital Ankara, Türkiye.

    Papers in Europe PMC
  4. 04
    Çelikel E5 papers · 2026

    Division of Pediatric Rheumatology, Department of Pediatrics, University of Health Sciences, Ankara Bilkent City Hospital Ankara, Türkiye.

    Papers in Europe PMC
  5. 05
    Ertem Ş5 papers · 2026

    Division of Pediatric Rheumatology, Department of Pediatrics, University of Health Sciences, Ankara Bilkent City Hospital Ankara, Türkiye.

    Papers in Europe PMC
  6. 06
    Ozen S5 papers · 2026

    Division of Pediatric Rheumatology, Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey.

    Papers in Europe PMC
  7. 07
    Öztürk D5 papers · 2026

    Division of Pediatric Rheumatology, Department of Pediatrics, University of Health Sciences, Ankara Bilkent City Hospital Ankara, Türkiye.

    Papers in Europe PMC
  8. 08
    Ozturk K5 papers · 2026

    Department of Paediatrics, Division of Rheumatology, Istanbul Medeniyet University, Istanbul, Turkey.

    Papers in Europe PMC
  9. 09
    Sözeri B5 papers · 2026

    Department of Pediatric Rheumatology, Ümraniye Training and Research Hospital, University of Health Sciences, Istanbul, Türkiye.

    Papers in Europe PMC
  10. 10
    Tunce E5 papers · 2026

    Department of Pediatric Rheumatology, Ümraniye Training and Research Hospital, University of Health Sciences, Istanbul, Türkiye.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

30

interventional trials for this specific condition

30 interventional trials matched this specific condition name; 7 currently recruiting in our sample.

Data as of 27 July 2026

30 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 95.7th percentile).

medium confidence · 95.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

34 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

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 2026-07-26

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.

"Familial Mediterranean fever" OR "Benign paroxysmal peritonitis" OR "Benign recurrent polyserositis" OR "Familial paroxysmal polyserositis" OR "Periodic disease" OR "Fiebre mediterránea familiar"

Run this search on Europe PMC

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

"Familial Mediterranean fever" OR "Benign paroxysmal peritonitis" OR "Benign recurrent polyserositis" OR "Familial paroxysmal polyserositis" OR "Periodic disease" OR "Fiebre mediterránea familiar" OR "MEFV"

Recall-expansion terms: MEFV

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: 30 interventional · 34 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: FMF

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

Ingested 2026-07-26T13:29:06.073Z