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ORPHA:169802

Severe hemophilia A

high confidenceSubtype of disorder

Also known as: Severe congenital F8 deficiency · Severe congenital factor VIII deficiency

Publications

4,320

91.3th percentile

Trials

94

Interventional, condition-specific

Researchers

1,184

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A severe form of hemophilia A characterized by a large deficiency of factor VIII (biological activity <1 IU/dL) leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following trauma, surgery or tooth extraction. It primarily affects males but may also be observed in female carriers of disease-causing mutations.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

severe factor VIII deficiency · severe haemophilia type A · severe hemophilia type A

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

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

    4,320 matched papers (2,511 in last 10 years) Source

  3. Phenotype characterisedPresent

    27 HPO annotations (e.g. Reduced factor VIII activity; Prolonged bleeding after surgery; Menorrhagia) 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 trialPresent

    94 matched on ClinicalTrials.gov (11 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)

27

Associated phenotypes · MONDO:0015719

  • Reduced factor VIII activity
  • Prolonged bleeding after surgery
  • Menorrhagia
  • Intracranial hemorrhage
  • Gastrointestinal hemorrhage

Showing 5 of 27 — 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?

4,320

4,320 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.

4,320 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).

2,511 in the last 10 years · high confidence · 91.3th percentile (publications denominator)

Phrase hits: 4,320 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,184

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
    Peyvandi F12 papers · 2026

    Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center and Fondazione Luigi Villa, Milan, Italy; Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan.

    Papers in Europe PMC
  2. 02
    Mahlangu J9 papers · 2026

    Department of Molecular Medicine and Haematology, University of the Witwatersrand, National Health Laboratory Service, Johannesburg, South Africa.

    Papers in Europe PMC
  3. 03
    Olivieri M9 papers · 2026

    Paediatric Thrombosis and Haemostasis Unit, Paediatric Haemophilia Center, Dr. von Hauner Children's Hospital, Ludwig Maximilian University Clinic, Munich, Germany.

    Papers in Europe PMC
  4. 04
    Carcao M7 papers · 2026

    Department of Paediatrics, Division of Haematology/Oncology, University of Toronto, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.

    Papers in Europe PMC
  5. 05
    Königs C6 papers · 2026

    Department of Pediatrics and Adolescent Medicine, Clinical and Molecular Haemostasis, Goethe University, Frankfurt, Germany.

    Papers in Europe PMC
  6. 06
    Matino D6 papers · 2026

    Thrombosis and Atherosclerosis Research Institute, McMaster University, Hamilton, ON, Canada.

    Papers in Europe PMC
  7. 07
    de Kovel M5 papers · 2026

    PedNet Haemophilia Research Foundation, Baarn, the Netherlands.

    Papers in Europe PMC
  8. 08
    Fischer K5 papers · 2026

    Center for Benign Haematology, Thrombosis and Haemostasis, Van Creveldkliniek, University Medical Center Utrecht, University Utrecht, the Netherlands.

    Papers in Europe PMC
  9. 09
    Kenet G5 papers · 2026

    National Hemophilia Center, Sheba Medical Center, Tel Hashomer and Amalia Biron Research Institute of Thrombosis and Hemostasis, Tel Aviv University, Tel Aviv, Israel.

    Papers in Europe PMC
  10. 10
    Oldenburg J5 papers · 2026

    Institute of Experimental Hematology and Transfusion Medicine, University Clinic Bonn, Bonn, Germany.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

94

interventional trials for this specific condition

94 interventional trials matched this specific condition name; 11 currently recruiting in our sample. 241 trials are registered for hemophilia A, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

94 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 98.4th percentile).

high confidence · 98.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: hemophilia A

241

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

Observational and natural-history studies

17 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 21 · after dedupe 21 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 21 · 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).

Uncertain / not reviewed (21)

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 Severe hemophilia A — 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.

"Severe hemophilia A" OR "Severe congenital F8 deficiency" OR "Severe congenital factor VIII deficiency" OR "severe factor VIII deficiency" OR "severe haemophilia type A" OR "severe hemophilia type A"

Run this search on Europe PMC

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

"Severe hemophilia A" OR "Severe congenital F8 deficiency" OR "Severe congenital factor VIII deficiency" OR "severe factor VIII deficiency" OR "severe haemophilia type A" OR "severe hemophilia type A"

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: 94 interventional · 17 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"hemophilia A"

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

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T08:38:12.151Z