RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:80

Antiphospholipid syndrome

low confidenceDisorder

Also known as: APLS · Antiphospholipid antibody syndrome · Classic APLS · Classic antiphospholipid syndrome · Hughes syndrome

Publications

30,173

Trials

68

Interventional, condition-specific

Researchers

1,083

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare systemic autoimmune disease characterized by hypercoagulability with vascular thrombosis and, in women, pregnancy morbidity (miscarriages, severe pre-eclampsia, placental insufficiency) in the presence of serum antiphospholipid antibodies, such as lupus anticoagulant, anticardiolipin antibodies, and anti-beta2-glycoprotein 1 antibodies.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (3)

antiphospholipid antibody syndrome · antiphospholipid syndrome · familial lupus anticoagulant

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.”

4/6 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

    30,173 matched papers (17,316 in last 10 years) Source

  3. Phenotype characterisedPresent

    101 HPO annotations (e.g. Vitritis; Visual loss; Retinal detachment) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. hydroxychloroquine Source

  6. Interventional trialPresent

    68 matched on ClinicalTrials.gov (29 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)

101

Associated phenotypes · MONDO:8000010

  • Vitritis
  • Visual loss
  • Retinal detachment
  • Iritis
  • Arterial thrombosis

Showing 5 of 101 — 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)

1

Designation · no FDA orphan-indication approval yet

  • EMA hydroxychloroquineTreatment of antiphospholipid syndrome · 12/01/2017 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

25

Drugs / clinical candidates · MONDO_8000010

CTD chemicals (MyDisease.info)

9 associated chemicals · 18 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Aspirin · therapeutic
  • Ciprofloxacin · therapeutic
  • Cyclophosphamide · therapeutic
  • defibrotide · therapeutic
  • Enoxaparin · therapeutic
  • Hydroxychloroquine · therapeutic
  • Thalidomide · therapeutic
  • Warfarin · therapeutic
  • Propylthiouracil · marker/mechanism

Pathways: PPAR signaling pathway; AMPK signaling pathway; Longevity regulating pathway; Osteoclast differentiation; Huntington's disease; Pathways in cancer; Transcriptional misregulation in cancer; Thyroid cancer

MyDisease.info · MONDO:8000010

Literature

Is anyone studying this?

30,173

30,173 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.

30,173 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).

17,316 in the last 10 years · low confidence

Phrase hits: 30,173 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,083

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
    Knight JS7 papers · 2026

    University of Michigan Medical School, Ann Arbor.

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

    Department of Autoimmune Diseases, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, Barcelona, Catalonia, Spain.

    Papers in Europe PMC
  3. 03
    Meroni PL6 papers · 2026

    IRCCS Istituto Auxologico Italiano, Milan, Italy.

    Papers in Europe PMC
  4. 04
    Pengo V5 papers · 2026

    University of Padova, Padova, Italy.

    Papers in Europe PMC
  5. 05
    Sciascia S5 papers · 2026

    University Center of Excellence on Nephrologic, Rheumatologic and Rare Diseases (ERK-Net, ERN-Reconnet and RITA-ERN Member), University of Turin, Turin, Italy.

    Papers in Europe PMC
  6. 06
    Zhang Y5 papers · 2026

    Department of Rheumatology and Immunology, The Second Hospital of Hebei Medical University, Shijiazhuang 050000, Hebei, China.

    Papers in Europe PMC
  7. 07
    Alijotas-Reig J4 papers · 2026

    Systemic Autoimmune Diseases Unit and Systemic Autoimmune Diseases Research Unit, Vall d' Hebron University Hospital, and Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.

    Papers in Europe PMC
  8. 08
    Cecchi I4 papers · 2026

    University of Turin, Turin, Italy.

    Papers in Europe PMC
  9. 09
    Li C4 papers · 2026

    Department of Rheumatology and Immunology, Peking University People's Hospital, Beijing, China 13811190098@163.com doctorliru123@163.com.

    Papers in Europe PMC
  10. 10
    Liu H4 papers · 2026

    Department of Obstetrics and Gynecology, Shandong Provincial Hospital, Shandong University, Jinan, Shandong, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

68

interventional trials for this specific condition

68 interventional trials matched this specific condition name; 29 currently recruiting in our sample.

Data as of 11 September 2026

68 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 98th percentile).

low confidence · 98th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

52 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 50 · after dedupe 50 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 50 · dropped 0 · fetched 2026-07-29

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 (50)

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 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.

("Antiphospholipid syndrome" OR "Antiphospholipid antibody syndrome" OR "Classic APLS" OR "Classic antiphospholipid syndrome" OR "Hughes syndrome" OR "familial lupus anticoagulant")

Run this search on Europe PMC

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

"Antiphospholipid syndrome" OR "Antiphospholipid antibody syndrome" OR "Classic APLS" OR "Classic antiphospholipid syndrome" OR "Hughes syndrome" OR "familial lupus anticoagulant"

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: 68 interventional · 52 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: APLS

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T12:20:18.110Z