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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

1,125

Distinct authors in sample

Gene link

—

Readiness

2/6

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.”

2/6 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 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 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)

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?

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=5449) is 41.

30,173 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).

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?

1,125

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
    Wang X6 papers · 2026

    Department of Obstetrics and Gynecology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, Shandong, P.R. China.

    Papers in Europe PMC
  2. 02
    Li Y5 papers · 2026

    Department of Obstetrics and Gynecology, Liaocheng People's Hospital, Liaocheng, Shandong, P.R. China.

    Papers in Europe PMC
  3. 03
    Wang J4 papers · 2026

    Department of Obstetrics and Gynecology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, 600 Yishan Road, Shanghai, 200233, China.

    Papers in Europe PMC
  4. 04
    Cai Y3 papers · 2026

    Department of Obstetrics, Shandong Provincial Hospital Affiliated to Shandong First Medical University, 324 Jingwu Road, Jinan, 250021, Shandong, China. 15617981027@163.com.

    Papers in Europe PMC
  5. 05
    de Carvalho JF3 papers · 2026

    Núcleo de Pesquisa em Doenças Crônicas não Transmissíveis (NUPEC), School of Nutrition from the Federal University of Bahia, Salvador, Bahia, Brazil. Electronic address: jotafc@gmail.com.

    Papers in Europe PMC
  6. 06
    Liu H3 papers · 2026

    Department of Rheumatology and Immunology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.

    Papers in Europe PMC
  7. 07
    Meroni PL3 papers · 2026

    Immunorheumatology Research Laboratory - IRCCS Istituto Auxologico Italiano, Milan, Italy.

    Papers in Europe PMC
  8. 08
    Nakamura H3 papers · 2026

    Department of Rheumatology, Endocrinology and Nephrology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.

    Papers in Europe PMC
  9. 09
    Undas A3 papers · 2026

    Department of Thromboembolic Disorders, Institute of Cardiology, Jagiellonian University Medical College, Krakow, Poland.

    Papers in Europe PMC
  10. 10
    Akiya K2 papers · 2026

    Division of Hematology and Rheumatology, Department of Medicine, Nihon University School of Medicine, Tokyo, Japan.

    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 27 July 2026

68 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 97.8th percentile).

low confidence · 97.8th 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

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.

"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