ORPHA:56425
Cold agglutinin disease
Also known as: CAD · CAS · Chronic cold agglutinin disease · Cold agglutinin syndrome
Publications
1,921
93.7th percentile
Trials
16
Interventional, condition-specific
Researchers
1,007
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Cold agglutinin disease is a type of autoimmune hemolytic anemia defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30°C).
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018922
- UMLS:C1264008
Additional Mondo synonyms (2)
chronic cold agglutinin disease · cold agglutinin 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.”
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
1,921 matched papers (1,208 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
16 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?
1,921
1,921 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.
1,921 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).
1,208 in the last 10 years · medium confidence · 93.7th percentile (publications denominator)
Phrase hits: 1,921 · MeSH hits: 0
Who's working on it?
1,007
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.
- 01Fattizzo B16 papers · 2026
Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy.
Papers in Europe PMC - 02Barcellini W14 papers · 2026
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Papers in Europe PMC - 03Berentsen S10 papers · 2026
Department of Research and Innovation, Haugesund Hospital, Haugesund, Norway.
Papers in Europe PMC - 04Röth A7 papers · 2026
Department of Hematology and Stem Cell Transplantation, West German Cancer Center, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
Papers in Europe PMC - 05Vos JMI7 papers · 2026
Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.
Papers in Europe PMC - 06Michel M6 papers · 2026
Henri-Mondor University Hospital, Assistance Publique-Hôpitaux de Paris, UPEC, Créteil, France.
Papers in Europe PMC - 07Broome CM5 papers · 2026
Division of Hematology, MedStar Georgetown University Hospital, Washington, DC, USA.
Papers in Europe PMC - 08D'Sa S4 papers · 2024
UCLH Centre for Waldenström's Macroglobulinemia and Related Conditions, University College London Hospitals NHS Foundation Trust, London, UK.
Papers in Europe PMC - 09Miyakawa Y4 papers · 2026
Department of General Internal Medicine, Saitama Medical University Hospital, Saitama, Japan.
Papers in Europe PMC - 10
Clinical research
Is a treatment being tested?
16
interventional trials for this specific condition
16 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
16 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 93.7th percentile).
medium confidence · 93.7th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
16 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT05318534·RECRUITING·Safety, Tolerability, Pharmacokinetic, and Pharmacodynamic Study in Healthy Male and Female Subjects and Safety, Tolerability, Pharmacokinetics, and Pilot Efficacy Biomarkers in Subjects With Cold Agglutinin Disease
Conditions: First in Man Study to Evaluate Initial Safety·Matched via name phrase
Observational and natural-history studies
3 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
- NCT05931718·RECRUITING·Prospective Evaluation of Diagnosis and Treatment of Patients With Autoimmune Cytopenias Including Autoimmune Hemolytic Anemia, Immune Thrombocytopenia, and Chronic Idiopathic/Autoimmune Neutropenia
Conditions: Autoimmune Hemolytic Anemia · Immune Thrombocytopenia · Chronic Idiopathic Neutropenia · Autoimmune Neutropenia·Matched via name phrase
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.
"Cold agglutinin disease" OR "Chronic cold agglutinin disease" OR "Cold agglutinin syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Cold agglutinin disease" OR "Chronic cold agglutinin disease" OR "Cold agglutinin 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: 16 interventional · 3 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: CAD; CAS
Confidence reasoning
- Preferred label is multi-word and distinctive
- 2 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T00:59:14.618Z