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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

3/6

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.”

3/6 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 characterisedPresent

    49 HPO annotations (e.g. Chorea; Abnormal jugular vein morphology; Antiphospholipid antibody positivity) 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 trialPartial

    None under the specific name; 64 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)

49

Associated phenotypes · MONDO:0018737

  • Chorea
  • Abnormal jugular vein morphology
  • Antiphospholipid antibody positivity
  • Abnormal thrombosis
  • Microangiopathic hemolytic anemia

Showing 5 of 49 — 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?

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=3967) is 59.

1,968 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).

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). 64 trials are registered for antiphospholipid syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.

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

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

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

Broader category: antiphospholipid syndrome

64

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

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 2026-07-30

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).

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 Catastrophic antiphospholipid 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.

"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