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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

13,770

96.1th percentile

Trials

30

Interventional, condition-specific

Researchers

1,017

Distinct authors in sample

Gene link

MEFV

Definitive

Readiness

6/6

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — MEFV

  2. LiteraturePresent

    13,770 matched papers (7,230 in last 10 years) Source

  3. Phenotype characterisedPresent

    93 HPO annotations (e.g. Chest pain; Pleuritis; Renal insufficiency) Source

  4. Animal modelPresent

    4 genotype models (Mus musculus) Source

  5. Orphan designationPresent

    3 FDA designations (1 FDA orphan-indication approval) — e.g. rilonacept Source

  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)

93

Associated phenotypes · MONDO:0018088

  • Chest pain
  • Pleuritis
  • Renal insufficiency
  • Proteinuria
  • Arthralgia

Showing 5 of 93 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

Model associations linked to this Mondo ID

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)

3

Designations · 1 with FDA orphan-indication approval

  • FDA rilonaceptFamilial Mediterranean Fever · 2013-01-09 · Not FDA Approved for Orphan Indication
  • FDA canakinumab (ILARIS)Familial Mediterranean Fever · 2013-12-05
  • FDA colchicine (Colcrys)Familial Mediterranean Fever · 2007-09-25

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

7

Drugs / clinical candidates · MONDO_0018088

CTD chemicals (MyDisease.info)

4 associated chemicals · 6 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Azathioprine · therapeutic
  • azelastine · therapeutic
  • Colchicine · therapeutic
  • Methotrexate · therapeutic

Pathways: NOD-like receptor signaling pathway; Innate Immune System; Immune System; Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways; Inflammasomes; The NLRP3 inflammasome

MyDisease.info · MONDO:0018088

Literature

Is anyone studying this?

13,770

13,770 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=3967) is 59.

13,770 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).

7,230 in the last 10 years · medium confidence · 96.1th 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 11 September 2026 · last trial check 28 July 2026

30 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 96th percentile).

medium confidence · 96th 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

33 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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · dropped 0 · fetched 2026-07-29

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).

Uncertain / not reviewed (2)

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 Familial Mediterranean fever — 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.

("Familial Mediterranean fever" OR "Benign paroxysmal peritonitis" OR "Benign recurrent polyserositis" OR "Familial paroxysmal polyserositis" OR "Periodic disease" OR "Fiebre mediterránea familiar") OR ("MEFV" OR "MEFV syndrome" OR "MEFV-related")

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"

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 · 33 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

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