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ORPHA:32960

Tumor necrosis factor receptor 1 associated periodic syndrome

low confidenceDisorder

Also known as: Familial Hibernian fever · TNF receptor 1-associated periodic syndrome · TRAPS syndrome

Publications

151,222

Trials

3

Interventional, condition-specific

Researchers

1,083

Distinct authors in sample

Gene link

TNFRSF1A

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (13)

FHF · Hibernian fever, familial · TNF receptor 1-associated periodic fever syndrome · TNF receptor-associated periodic syndrome · TRAPS · Tumor Necrosis Factor Receptor-Associated Periodic Syndrome · familial Hibernian fever · tumor necrosis factor receptor 1 associated periodic syndrome · tumor necrosis factor receptor 1-associated periodic syndrome · tumor necrosis factor receptor-associated periodic syndrome · tumour necrosis factor receptor 1 associated periodic syndrome · tumour necrosis factor receptor 1-associated periodic syndrome · tumour necrosis factor receptor-associated periodic syndrome

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 — TNFRSF1A

  2. LiteraturePresent

    151,222 matched papers (103,504 in last 10 years) Source

  3. Phenotype characterisedPresent

    66 HPO annotations (e.g. Abdominal pain; Chronic diarrhea; Conjunctival hyperemia) Source

  4. Animal modelPresent

    6 genotype models (Mus musculus) Source

  5. Orphan designationPartial

    1 FDA · 1 EMA designations (none yet with FDA orphan-indication approval) — e.g. canakinumab Source

  6. Interventional trialPresent

    3 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?

Yes — we know a specific gene responsible (TNFRSF1A).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

66

Associated phenotypes · MONDO:0007727

  • Abdominal pain
  • Chronic diarrhea
  • Conjunctival hyperemia
  • Erysipelas
  • Oligoarthritis

Showing 5 of 66 — open Monarch for the full list.

Animal models (Monarch / Alliance)

6

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)

2

Designations · no FDA orphan-indication approval yet

  • FDA canakinumab (Ilaris)Periodic syndrome TRAPS · 2012-09-04
  • EMA canakinumabTreatment of tumour-necrosis-factor-receptor-associated periodic syndrome · 08/11/2012 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0007727

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

151,222

151,222 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.

151,222 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).

103,504 in the last 10 years · low confidence

Phrase hits: 144,598 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,083

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
    Georgin-Lavialle S8 papers · 2026

    CEREMAIA (French reference center for auto-inflammatory diseases and inflammatory amyloidosis), Kremlin-Bicêtre, France.

    Papers in Europe PMC
  2. 02
    Gattorno M7 papers · 2025

    G. Gaslini Institute, Genova, Italy

    Papers in Europe PMC
  3. 03
    Kuemmerle-Deschner JB7 papers · 2026

    University Hospital Tubingen, Tubingen, Germany.

    Papers in Europe PMC
  4. 04
    Belot A5 papers · 2025

    Pediatric Nephrology Rheumatology and Dermatology, CHU Lyon, Lyon, France.

    Papers in Europe PMC
  5. 05
    Benseler S5 papers · 2024

    Alberta Children's Hospital, Calgary, Canada.

    Papers in Europe PMC
  6. 06
    Boursier G5 papers · 2026

    Laboratoire de Génétique des Maladies rares et autoinflammatoires, Service de Génétique moléculaire et cytogénomique, CHU Montpellier, Univ Montpellier, CeRéMAIA, Montpellier, France.

    Papers in Europe PMC
  7. 07
    Cantarini L5 papers · 2024

    Rheumatology Unit, Institute of Rheumatology, Interdepartmental Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Policlinico Le Scotte, University of Siena, Viale Bracci 1, 53100 Siena, Italy. cantariniluca@hotmail.com

    Papers in Europe PMC
  8. 08
    Hentgen V5 papers · 2025

    Centre Hospitalier de Versailles, Le Chesnay Cedex, France

    Papers in Europe PMC
  9. 09
    Frenkel J4 papers · 2023

    Department of Pediatrics, University Medical Center Utrecht, Utrecht, Netherlands

    Papers in Europe PMC
  10. 10
    Kallinich T4 papers · 2026

    Charite University Medicine, Berlin, Germany

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

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

Data as of 11 September 2026 · last trial check 28 July 2026

3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).

low confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

3 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.

Observational and natural-history studies

5 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 2026-07-29

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).

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 Tumor necrosis factor receptor 1 associated periodic syndrome — 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.

("Tumor necrosis factor receptor 1 associated periodic syndrome" OR "Familial Hibernian fever" OR "TNF receptor 1-associated periodic syndrome" OR "TRAPS syndrome" OR "Hibernian fever, familial" OR "TNF receptor 1-associated periodic fever syndrome" OR "TNF receptor-associated periodic syndrome" OR "TRAPS" OR "Tumor Necrosis Factor Receptor-Associated Periodic Syndrome" OR "tumor necrosis factor receptor 1-associated periodic syndrome" OR "tumour necrosis factor receptor 1 associated periodic syndrome" OR "tumour necrosis factor receptor 1-associated periodic syndrome" OR "tumour necrosis factor receptor-associated periodic syndrome") OR ("TNFRSF1A" OR "TNFRSF1A syndrome" OR "TNFRSF1A-related")

Run this search on Europe PMC

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

"Tumor necrosis factor receptor 1 associated periodic syndrome" OR "Familial Hibernian fever" OR "TNF receptor 1-associated periodic syndrome" OR "TRAPS syndrome" OR "Hibernian fever, familial" OR "TNF receptor 1-associated periodic fever syndrome" OR "TNF receptor-associated periodic syndrome" OR "TRAPS" OR "Tumor Necrosis Factor Receptor-Associated Periodic Syndrome" OR "tumor necrosis factor receptor 1-associated periodic syndrome" OR "tumour necrosis factor receptor 1 associated periodic syndrome" OR "tumour necrosis factor receptor 1-associated periodic syndrome" OR "tumour necrosis factor receptor-associated periodic syndrome"

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: 3 interventional · 5 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: FHF

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 (151222) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T23:31:07.886Z