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ORPHA:169805

Moderate hemophilia A

high confidenceSubtype of disorder

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

Publications

926

85.2th percentile

Trials

3

Interventional, condition-specific

Researchers

1,216

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A moderately severe form of hemophilia A characterized by factor VIII deficiency (biological activity between 1 and 5 IU/dL) leading to abnormal bleeding as a result of minor injuries, or following trauma, surgery or tooth extraction. Spontaneous hemorrhages are rare. The condition primarily affects males but may also be observed in female carriers of disease-causing mutations.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

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

    926 matched papers (631 in last 10 years) Source

  3. Phenotype characterisedPresent

    26 HPO annotations (e.g. Intraventricular hemorrhage; Epidural hemorrhage; Prolonged partial thromboplastin time) 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

    3 matched on ClinicalTrials.gov (1 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)

26

Associated phenotypes · MONDO:0015720

  • Intraventricular hemorrhage
  • Epidural hemorrhage
  • Prolonged partial thromboplastin time
  • Bleeding with minor or no trauma
  • Intramuscular hematoma

Showing 5 of 26 — 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?

926

926 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.

926 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).

631 in the last 10 years · high confidence · 85.2th percentile (publications denominator)

Phrase hits: 926 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,216

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
    Castaman G8 papers · 2026

    Department of Oncology, Center for Bleeding Disorders Careggi University Hospital Florence Italy.

    Papers in Europe PMC
  2. 02
    Coppens M8 papers · 2025

    Department of Vascular Medicine Amsterdam University Medical Centers Amsterdam The Netherlands.

    Papers in Europe PMC
  3. 03
    Gouw SC8 papers · 2025

    Amsterdam UMC University of Amsterdam, Emma Children's Hospital, Pediatric Hematology Amsterdam The Netherlands.

    Papers in Europe PMC
  4. 04
    Fijnvandraat K7 papers · 2025

    Amsterdam UMC University of Amsterdam, Emma Children's Hospital, Pediatric Hematology Amsterdam The Netherlands.

    Papers in Europe PMC
  5. 05
    Leebeek FWG7 papers · 2025

    Department of Hematology Erasmus MC, Erasmus University Medical Center Rotterdam The Netherlands.

    Papers in Europe PMC
  6. 06
    Fischer K6 papers · 2025

    Van Creveldkliniek, Division of Internal Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.

    Papers in Europe PMC
  7. 07
    Oldenburg J6 papers · 2026

    Institute of Experimental Haematology and Transfusion Medicine, University Clinic Bonn, 53127 Bonn, Germany.

    Papers in Europe PMC
  8. 08
    Olivieri M6 papers · 2026

    Pediatric Thrombosis and Hemostasis Unit, Pediatric Hemophilia Center, Dr. von Hauner Children's Hospital, LMU München, Munich, Germany.

    Papers in Europe PMC
  9. 09
    Wang H5 papers · 2026

    Department of Laboratory Medicine, The Second Affiliated Hospital of Chongqing Medical University , Chongqing ,

    Papers in Europe PMC
  10. 10
    Beckers EAM4 papers · 2023

    Department of Internal Medicine, Division of Hematology, CARIM School for Cardiovascular Diseases Maastricht University Medical Center Maastricht The Netherlands.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 332 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

3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).

high confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: hemophilia A

332

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

3 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.

None of the matched observational studies is currently listed as 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 7 · after dedupe 7 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 7 · 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 (7)

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 Moderate 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.

"Moderate hemophilia A" OR "Moderate congenital F8 deficiency" OR "Moderate congenital factor VIII deficiency" OR "moderately severe factor VIII deficiency" OR "moderately severe haemophilia type A" OR "moderately 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):

"Moderate hemophilia A" OR "Moderate congenital F8 deficiency" OR "Moderate congenital factor VIII deficiency" OR "moderately severe factor VIII deficiency" OR "moderately severe haemophilia type A" OR "moderately 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: 3 interventional · 3 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 2026-07-27T08:38:24.884Z