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ORPHA:464343

Catastrophic antiphospholipid syndrome

low confidenceDisorder

Also known as: CAPS · Catastrophic APS

Publications

1,968

Trials

0

Interventional, condition-specific

Researchers

1,144

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare systemic autoimmune disease characterized by acute onset of life-threatening thromboses in three or more organs either simultaneously or within less than a week, in the presence of serum antiphospholipid antibodies (such as lupus anticoagulant, anticardiolipin antibodies, and anti-beta2-glycoprotein 1 antibodies), and with histopathological confirmation of small-vessel occlusion in at least one affected organ. The condition is often precipitated by infection, trauma, or surgery.

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 (2)

caps · catastrophic APS

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    1,968 matched papers (1,299 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 62 for broader category antiphospholipid syndrome

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?

1,968

1,968 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.

1,968 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).

1,299 in the last 10 years · low confidence

Phrase hits: 1,968 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,144

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Amoura Z6 papers · 2026

    Service de Médecine Interne 2, Centre de Référence des maladies auto-immunes et auto-inflammatoires systémiques rares de l'adulte d'Ile-de-France, Centre et Martinique, Institut E3M, Inserm UMRS, Centre d'Immunologie et des Maladies Infectieuses (CIMI-Paris), Sorbonne Université, Assistance Publique-Hôpitaux de Paris (APHP), Groupement Hospitalier Pitié-Salpêtrière (GHPS), Paris, France.

    Papers in Europe PMC
  2. 02
    Cervera R6 papers · 2026

    Department of Autoimmune Diseases, Reference Centre for Systemic Autoimmune Diseases (UEC/CSUR) of the Catalan and Spanish Health Systems-Member of ERN-ReCONNET, Hospital Clínic, Universitat de Barcelona, Barcelona, Catalonia, Spain. Electronic address: rcervera@clinic.cat.

    Papers in Europe PMC
  3. 03
    Espinosa G6 papers · 2026

    Department of Autoimmune Diseases, Reference Centre for Systemic Autoimmune Diseases (UEC/CSUR) of the Catalan and Spanish Health Systems-Member of ERN-ReCONNET, Hospital Clínic, Universitat de Barcelona, Barcelona, Catalonia, Spain.

    Papers in Europe PMC
  4. 04
    Mathian A6 papers · 2026

    Service de Médecine Interne 2, Centre de Référence des maladies auto-immunes et auto-inflammatoires systémiques rares de l'adulte d'Ile-de-France, Centre et Martinique, Institut E3M, Inserm UMRS, Centre d'Immunologie et des Maladies Infectieuses (CIMI-Paris), Sorbonne Université, Assistance Publique-Hôpitaux de Paris (APHP), Groupement Hospitalier Pitié-Salpêtrière (GHPS), Paris, France.

    Papers in Europe PMC
  5. 05
    Morel N6 papers · 2026

    Internal Medicine Department, AP-HP, Referral Center for Rare Autoimmune and Systemic Diseases of Ile de France, Cochin Hospital, Paris, France.

    Papers in Europe PMC
  6. 06
    Costedoat-Chalumeau N5 papers · 2026

    Internal Medicine Department, AP-HP, Referral Center for Rare Autoimmune and Systemic Diseases of Ile de France, Cochin Hospital, Paris, France; Université Paris Cité, Center for Epidemiology and Statistics, Institut national de la santé et de la recherche médicale, French National Institute for Agricultural Research, Paris, France. Electronic address: nathalie.costedoat@aphp.fr.

    Papers in Europe PMC
  7. 07
    Erkan D5 papers · 2026

    Barbara Volcker Center for Women and Rheumatic Diseases, Hospital for Special Surgery, Weill Cornell Medicine, New York, NY, USA.

    Papers in Europe PMC
  8. 08
    Moyon Q5 papers · 2026

    Service de Médecine Intensive-Réanimation, Sorbonne Université, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital La Pitié-Salpêtrière, 47-83, Boulevard de l'Hôpital, Paris Cedex, 75651, France.

    Papers in Europe PMC
  9. 09
    Yelnik C5 papers · 2026

    Univ. Lille, Inserm, CHU Lille, Service de Médecine Interne et d'Immunologie Clinique, Centre de référence des maladies autoimmunes systémiques rares du nord et Nord-Ouest de France (CeRAINO), U1167 RID-AGE, F-59000 Lille, France.

    Papers in Europe PMC
  10. 10
    Hachulla E4 papers · 2026

    Univ. Lille, Inserm, CHU Lille, Service de Médecine Interne et d'Immunologie Clinique, Centre de référence des maladies autoimmunes systémiques rares du nord et Nord-Ouest de France (CeRAINO), U1167 RID-AGE, F-59000 Lille, France.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 62 trials are registered for antiphospholipid syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

low confidence · 36.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

62 interventional trials matched antiphospholipid syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: antiphospholipid syndrome

62

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

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 2026-07-26

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.

"Catastrophic antiphospholipid syndrome" OR "Catastrophic APS"

Run this search on Europe PMC

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

"Catastrophic antiphospholipid syndrome" OR "Catastrophic APS"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"antiphospholipid syndrome"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: CAPS

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 (1968) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T16:55:18.692Z