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ORPHA:98878

Hemophilia A

medium confidenceDisorder

Also known as: Congenital F8 deficiency · Congenital FVIII deficiency · Congenital Factor VIII deficiency

Publications

60,688

98.9th percentile

Trials

336

Interventional, condition-specific

Researchers

1,270

Distinct authors in sample

Gene link

F8

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic hematological disorder characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.

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 (11)

congenital factor VIII disorder · factor VIII deficiency · haemophilia a, X-linked recessive · haemophilia type A · haemophilia type a · hemophilia A · hemophilia a, X-linked recessive · hemophilia type A · hemophilia type a · hereditary Factor VIII deficiency · hereditary Factor VIII deficiency disease

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.”

6/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — F8

  2. LiteraturePresent

    60,688 matched papers (26,022 in last 10 years) Source

  3. Phenotype characterisedPresent

    95 HPO annotations (e.g. Joint swelling; Arthralgia; Gastrointestinal hemorrhage) Source

  4. Animal modelPresent

    9 genotype models (Rattus norvegicus, Danio rerio, Mus musculus) Source

  5. Orphan designationPresent

    9 FDA designations (3 FDA orphan-indication approvals) — e.g. concizumab Source

  6. Interventional trialPresent

    336 matched on ClinicalTrials.gov (49 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?

Yes — we know a specific gene responsible (F8).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

95

Associated phenotypes · MONDO:0010602

  • Joint swelling
  • Arthralgia
  • Gastrointestinal hemorrhage
  • Intraventricular hemorrhage
  • Epidural hemorrhage

Showing 5 of 95 — open Monarch for the full list.

Animal models (Monarch / Alliance)

9

Model associations linked to this Mondo ID

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)

9

Designations · 3 with FDA orphan-indication approval

  • FDA concizumabHemophilia A · 2018-10-22 · Not FDA Approved for Orphan Indication
  • FDA human coagulation factor VIIIHemophilia A Immune Tolerance · 2012-12-03 · Not FDA Approved for Orphan Indication
  • FDA marzeptacog alfa (activated)Hemophilia A · 2012-11-30 · Not FDA Approved for Orphan Indication
  • FDA emicizumab-kxwh (Hemlibra)Hemophilia A · 2014-01-10
  • FDA anti-inhibitor coagulant complex (FEIBA)Hemophilia A · 2013-04-12
  • FDA Coagulation factor VIIa (recombinant) (NovoSeven)Hemophilia A · 2004-06-18
  • FDA Antihemophilic factor (recombinant) (ReFacto, Xyntha)Hemophilia A Hemorrhagic episodes · 1996-02-08
  • FDA Antihemophilic factor (recombinant) (Kogenate)Hemophilia A · 1989-09-25

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

42

Drugs / clinical candidates · MONDO_0010602

CTD chemicals (MyDisease.info)

2 associated chemicals · 23 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Tranexamic Acid · therapeutic
  • Cyclophosphamide · marker/mechanism

Pathways: Complement and coagulation cascades; Hemostasis; Platelet degranulation; Extrinsic Pathway of Fibrin Clot Formation; Intrinsic Pathway of Fibrin Clot Formation; Common Pathway of Fibrin Clot Formation; Formation of Fibrin Clot (Clotting Cascade); Gamma-carboxylation of protein precursors

MyDisease.info · MONDO:0010602

Literature

Is anyone studying this?

60,688

60,688 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.

60,688 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).

26,022 in the last 10 years · medium confidence · 98.9th percentile (publications denominator)

Phrase hits: 60,681 · MeSH hits: 1,100

Open Europe PMC search

Who's working on it?

1,270

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
    Matino D6 papers · 2026

    Department of Medicine, Division of Hematology, McMaster University, Hamilton, Canada.

    Papers in Europe PMC
  2. 02
    Peyvandi F5 papers · 2026

    Università degli Studi di Milano, Department of Pathophysiology and Transplantation, Milan.

    Papers in Europe PMC
  3. 03
    Gould T4 papers · 2026

    Pfizer Inc. New York, New York, USA.

    Papers in Europe PMC
  4. 04
    Iorio A4 papers · 2026

    Department of Medicine, Division of Hematology, McMaster University, Hamilton, Canada.

    Papers in Europe PMC
  5. 05
    Keepanasseril A4 papers · 2026

    Department of Health Research Methods, Evidence, and Impact, McMaster University, Hamilton, Canada.

    Papers in Europe PMC
  6. 06
    Mahlangu J4 papers · 2026

    Department of Molecular Medicine and Hematology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

    Papers in Europe PMC
  7. 07
    Acharya SS3 papers · 2026

    Cohen Children's Medical Center, Northwell Hemostasis and Thrombosis Center, Northwell Health, New Hyde Park, NY.

    Papers in Europe PMC
  8. 08
    Germini F3 papers · 2026

    Department of Medicine, Division of Hematology, McMaster University, Hamilton, Canada.

    Papers in Europe PMC
  9. 09
    Ibrahim Q3 papers · 2026

    Department of Health Research Methods, Evidence, and Impact, McMaster University, Hamilton, Canada.

    Papers in Europe PMC
  10. 10
    Iserman E3 papers · 2026

    Department of Health Research Methods, Evidence, and Impact, McMaster University, Hamilton, Canada.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

336

interventional trials for this specific condition

336 interventional trials matched this specific condition name; 49 currently recruiting in our sample. 154 trials are registered for hemophilia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 28 July 2026

336 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 99.6th percentile).

medium confidence · 99.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: hemophilia

154

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

183 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 49 · after dedupe 48 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 48 · 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 (48)

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 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.

("Hemophilia A" OR "Congenital F8 deficiency" OR "Congenital FVIII deficiency" OR "Congenital Factor VIII deficiency" OR "congenital factor VIII disorder" OR "factor VIII deficiency" OR "haemophilia a, X-linked recessive" OR "haemophilia type A" OR "hemophilia a, X-linked recessive" OR "hemophilia type A" OR "hereditary Factor VIII deficiency" OR "hereditary Factor VIII deficiency disease") OR (MESH:"Hemophilia A") OR ("F8 syndrome" OR "F8-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Hemophilia A

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

"Hemophilia A" OR "Congenital F8 deficiency" OR "Congenital FVIII deficiency" OR "Congenital Factor VIII deficiency" OR "congenital factor VIII disorder" OR "factor VIII deficiency" OR "haemophilia a, X-linked recessive" OR "haemophilia type A" OR "hemophilia a, X-linked recessive" OR "hemophilia type A" OR "hereditary Factor VIII deficiency" OR "hereditary Factor VIII deficiency disease"

Interventional trials matched via: both, 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: 336 interventional · 183 observational · 2 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"hemophilia"

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

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T05:39:00.060Z