ORPHA:575
Muckle-Wells syndrome
Also known as: Neutrophilic urticaria
Publications
1,700
Trials
9
Interventional, condition-specific
Researchers
1,208
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008633
- OMIM:191900
- UMLS:C0268390
- NCIT:C119054
Additional Mondo synonyms (1)
neutrophilic urticaria
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.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
1,700 matched papers (854 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
9 matched on ClinicalTrials.gov (1 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
1,700
1,700 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=5449) is 41.
1,700 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).
854 in the last 10 years · low confidence
Phrase hits: 1,700 · MeSH hits: 0
Who's working on it?
1,208
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.
- 01Hoffman HM5 papers · 2024
University of California San Diego, San Diego, California, USA.
Papers in Europe PMC - 02Kuemmerle-Deschner JB5 papers · 2026
Division of Pediatric Rheumatology, Department of Paediatrics and Autoinflammation Reference Center Tuebingen, University Hospital Tuebingen, Tübingen, Germany.
Papers in Europe PMC - 03
- 04
- 05Zhang T4 papers · 2025
Institute of Science and Technology, China Pharmaceutical University, Nanjing, 211198, People's Republic of China.
Papers in Europe PMC - 06Zhang Y4 papers · 2025
Department of Otology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Papers in Europe PMC - 07Ambrus-Aikelin G3 papers · 2023
Jecure Therapeutics, San Diego, California (D.P., M.L., C.M., G.A.-A., R.S., A.M.S., R.F.P., J.A.S., J.M.V., G.B.) and Department of Pediatrics, University of California San Diego (UCSD), La Jolla, California (C.D.J., M.D.M., H.M.H., A.E.F.).
Papers in Europe PMC - 08Arostegui JI3 papers · 2025
Department of Immunology, Hospital Clínic, Barcelona, Spain.
Papers in Europe PMC - 09Bain G3 papers · 2023
Jecure Therapeutics, San Diego, California (D.P., M.L., C.M., G.A.-A., R.S., A.M.S., R.F.P., J.A.S., J.M.V., G.B.) and Department of Pediatrics, University of California San Diego (UCSD), La Jolla, California (C.D.J., M.D.M., H.M.H., A.E.F.).
Papers in Europe PMC - 10Boursier G3 papers · 2025
Laboratory of Rare and Autoinflammatory Genetic Diseases and Reference Centre for Autoinflammatory Diseases and Amyloidosis (CEREMAIA), Department of Medical Genetics, Rare Diseases and Personalized Medicine, CHU Montpellier, University of Montpellier, Montpellier, France.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
9
interventional trials for this specific condition
9 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
9 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 91.2th percentile).
low confidence · 91.2th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
9 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06544018·RECRUITING·Circadian Rhythm Deregulation in Patients With CAPS
Conditions: Cryopyrin Associated Periodic Syndrome · Familial Cold Urticaria · Muckle-Wells Syndrome · CINCA Syndrome·Matched via name phrase
Observational and natural-history studies
1 observational study matches 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.
None of the matched observational studies is currently listed as recruiting.
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 2026-07-26This 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.
"Muckle-Wells syndrome" OR "Neutrophilic urticaria"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Muckle-Wells syndrome" OR "Neutrophilic urticaria"
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: 9 interventional · 1 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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (1700) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T14:24:43.258Z