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ORPHA:91138

Cryoglobulinemic vasculitis

low confidenceDisorder

Also known as: Essential cryoglobulinemia · Essential mixed cryoglobulinemia · Mixed cryoglobulinemia · Primary cryoglobulinemia

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

6,627

Trials

5

Interventional, condition-specific

Researchers

1,242

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare immune complex-mediated vasculitis characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifesting clinically with the classical triad of purpura, weakness and arthralgia.

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 (6)

MC · Mixed Cryoglobulinemia · essential cryoglobulinemia · essential mixed cryoglobulinemia · mixed cryoglobulinemia · primary cryoglobulinemia

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 identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    6,627 matched papers (2,484 in last 10 years) Source

  3. Phenotype characterisedPresent

    38 HPO annotations (e.g. Abnormal renal physiology; Chronic kidney disease; Hematuria) Source

  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

    5 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)

38

Associated phenotypes · MONDO:0007407

  • Abnormal renal physiology
  • Chronic kidney disease
  • Hematuria
  • Anasarca
  • Abnormality of blood and blood-forming tissues

Showing 5 of 38 — open Monarch for the full list.

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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

6,627

6,627 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.

6,627 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).

2,484 in the last 10 years · low confidence

Phrase hits: 6,627 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,242

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
    Gragnani L9 papers · 2026

    MASVE Interdepartmental Hepatology Center, Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy.

    Papers in Europe PMC
  2. 02
    Quartuccio L9 papers · 2026

    Rheumatology Clinic Department of Medicine (DAME), ASUFC, University of Udine, Udine, Italy.

    Papers in Europe PMC
  3. 03
    Zignego AL9 papers · 2026

    MASVE Interdepartmental Hepatology Center, Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy - annalinda.zignego@unifi.it.

    Papers in Europe PMC
  4. 04
    Visentini M8 papers · 2026

    Department of Translational and Precision Medicine, Sapienza University of Rome, Rome, Italy.

    Papers in Europe PMC
  5. 05
    Casato M6 papers · 2026

    Department of Translational and Precision Medicine, Sapienza University of Rome, Rome, Italy.

    Papers in Europe PMC
  6. 06
    Ferri C6 papers · 2026

    Rheumatology Clinic 'Madonna dello Scoglio' Cotronei, Crotone, Italy. clferri@unimore.it.

    Papers in Europe PMC
  7. 07
    Lauletta G6 papers · 2026

    Department of Biomedical Sciences and Human Oncology, University of Bari "Aldo Moro", Bari, Italy.

    Papers in Europe PMC
  8. 08
    Mazzaro C6 papers · 2026

    Clinical Experimental Onco-Haematology Unit, Centro di Riferimento Oncologico di Aviano (CRO) IRCCS, Aviano, Italy.

    Papers in Europe PMC
  9. 09
    Treppo E6 papers · 2026

    Rheumatology Clinic Department of Medicine (DAME), ASUFC, University of Udine, Udine, Italy.

    Papers in Europe PMC
  10. 10
    Vacchi C6 papers · 2026

    Rheumatology Unit, Azienda Policlinico di Modena, University of Modena and Reggio Emilia, Modena, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

5

interventional trials for this specific condition

5 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 190 trials are registered for vasculitis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

5 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 89.2th percentile).

low confidence · 89.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: vasculitis

190

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

6 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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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).

Uncertain / not reviewed (1)

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 Cryoglobulinemic vasculitis — 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.

"Cryoglobulinemic vasculitis" OR "Essential cryoglobulinemia" OR "Essential mixed cryoglobulinemia" OR "Mixed cryoglobulinemia" OR "Primary cryoglobulinemia"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Cryoglobulinemia, Familial Mixed

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

"Cryoglobulinemic vasculitis" OR "Essential cryoglobulinemia" OR "Essential mixed cryoglobulinemia" OR "Mixed cryoglobulinemia" OR "Primary cryoglobulinemia" OR "Cryoglobulinemia, Familial Mixed"

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: 5 interventional · 6 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"vasculitis"

Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: MC

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 (6627) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T03:57:42.641Z