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ORPHA:98879

Hemophilia B

high confidenceDisorder

Also known as: Congenital F9 deficiency · Congenital factor IX deficiency · Christmas disease

Publications

10,506

93.8th percentile

Trials

120

Interventional, condition-specific

Researchers

1,057

Distinct authors in sample

Gene link

F9

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare hematological disorder characterized by spontaneous or prolonged hemorrhages due to factor IX 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 (10)

congenital factor IX deficiency · congenital factor IX disorder · factor IX deficiency · haemophilia b, X-linked recessive · haemophilia type B · hemophilia B · hemophilia b, X-linked recessive · hemophilia type B · hereditary Factor IX deficiency · hereditary Factor IX 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 — F9

  2. LiteraturePresent

    10,506 matched papers (4,038 in last 10 years) Source

  3. Phenotype characterisedPresent

    28 HPO annotations (e.g. Hematuria; Poor wound healing; Prolonged partial thromboplastin time) Source

  4. Animal modelPresent

    6 genotype models (Mus musculus, Danio rerio) Source

  5. Orphan designationPresent

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

  6. Interventional trialPresent

    120 matched on ClinicalTrials.gov (18 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 (F9).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

28

Associated phenotypes · MONDO:0010604

  • Hematuria
  • Poor wound healing
  • Prolonged partial thromboplastin time
  • Spontaneous, recurrent epistaxis
  • Intracranial hemorrhage

Showing 5 of 28 — open Monarch for the full list.

Animal models (Monarch / Alliance)

6

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)

8

Designations · 3 with FDA orphan-indication approval

  • FDA concizumabHemophilia B · 2019-07-22 · Not FDA Approved for Orphan Indication
  • FDA Dalcinonacog AlfaHemophilia B · 2017-09-20 · Not FDA Approved for Orphan Indication
  • FDA Nonacog beta pegolHemophilia B · 2013-03-18 · Not FDA Approved for Orphan Indication
  • FDA coagulation factor IX (recombinant) (RIXUBIS)Hemophilia B Bleeding · 2012-10-31
  • FDA Coagulation factor IX (recombinant), Fc fusion protein (ALPROLIX)Hemophilia B hemophilia B Hemorrhagic episodes · 2008-10-30
  • FDA Coagulation Factor IX (recombinant) (BeneFix)Hemophilia B · 1994-10-03
  • FDA Coagulation Factor IX (human) (AlphaNine)Hemophilia B · 1990-07-05
  • FDA Coagulation factor IX (Mononine)Hemophilia B Complications · 1989-06-27

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

25

Drugs / clinical candidates · MONDO_0010604

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

10,506

10,506 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.

10,506 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).

4,038 in the last 10 years · high confidence · 93.8th percentile (publications denominator)

Phrase hits: 10,499 · MeSH hits: 193

Open Europe PMC search

Who's working on it?

1,057

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 D7 papers · 2026

    Thrombosis and Atherosclerosis Research Institute, McMaster University, Hamilton, Ontario, Canada; Department of Medicine, McMaster University, Hamilton, Ontario, Canada.

    Papers in Europe PMC
  2. 02
    Miesbach W7 papers · 2026

    Department of Haemostaseology and Haemophilia, University Hospital Frankfurt, Theodor-Stern-Kai 7, 60596 Frankfurt, Germany.

    Papers in Europe PMC
  3. 03
    Mahlangu J6 papers · 2026

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

    Papers in Europe PMC
  4. 04
    Yang R6 papers · 2026

    State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Tianjin Key Laboratory of Gene Therapy for Blood Diseases, CAMS Key Laboratory of Gene Therapy for Blood Diseases, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, People's Republic of China.

    Papers in Europe PMC
  5. 05
    Le Quellec S5 papers · 2026

    CSL Behring Europe, Philipp-Reis-Strasse 2, 65795 Hattersheim am Main, Germany.

    Papers in Europe PMC
  6. 06
    Monahan PE5 papers · 2026

    CSL Behring, 1020 First Avenue, King of Prussia, PA 61501, USA.

    Papers in Europe PMC
  7. 07
    Dai J4 papers · 2026

    Collaborative Innovation Center of Hematology, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China. Electronic address: dj40572@rjh.com.cn.

    Papers in Europe PMC
  8. 08
    Dargaud Y4 papers · 2026

    French Reference Center for Hemophilia, Clinical Hemostasis Unit, Hospital Louis Pardel, Lyon, France; UR4609, Research Unit on Haemostasis and Thrombosis, University Claude Bernard Lyon 1, Lyon, France. Electronic address: ydargaud@univ-lyon1.fr.

    Papers in Europe PMC
  9. 09
    Drelich D4 papers · 2026

    CSL Behring, 1020 First Avenue, King of Prussia, PA 61501, USA.

    Papers in Europe PMC
  10. 10
    Hermans C4 papers · 2026

    Division of Haematology, Cliniques Universitaires Saint-Luc, Brussels, Belgium.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

120

interventional trials for this specific condition

120 interventional trials matched this specific condition name; 18 currently recruiting in our sample. 369 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

120 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 98.7th percentile).

high confidence · 98.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: hemophilia

369

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

76 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 19 · after dedupe 19 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 19 · 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 (19)

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 B — 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 B" OR "Congenital F9 deficiency" OR "Congenital factor IX deficiency" OR "Christmas disease" OR "congenital factor IX disorder" OR "factor IX deficiency" OR "haemophilia b, X-linked recessive" OR "haemophilia type B" OR "hemophilia b, X-linked recessive" OR "hemophilia type B" OR "hereditary Factor IX deficiency" OR "hereditary Factor IX deficiency disease") OR (MESH:"Hemophilia B") OR ("F9 syndrome" OR "F9-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Hemophilia B

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

"Hemophilia B" OR "Congenital F9 deficiency" OR "Congenital factor IX deficiency" OR "Christmas disease" OR "congenital factor IX disorder" OR "factor IX deficiency" OR "haemophilia b, X-linked recessive" OR "haemophilia type B" OR "hemophilia b, X-linked recessive" OR "hemophilia type B" OR "hereditary Factor IX deficiency" OR "hereditary Factor IX deficiency disease"

Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 120 interventional · 76 observational · 0 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 multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T05:39:21.727Z