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ORPHA:169796

Moderate hemophilia B

high confidenceSubtype of disorder

Also known as: Moderate congenital F9 deficiency · Moderate congenital factor IX deficiency

Publications

121

55.8th percentile

Trials

0

Interventional, condition-specific

Researchers

703

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A moderately severe form of hemophilia B characterized by factor IX deficiency (biological activity 1-5 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.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

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 IX deficiency · moderately severe haemophilia type B · moderately severe hemophilia type B

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    121 matched papers (91 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  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 trialPartial

    None under the specific name; 120 for broader category hemophilia B

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)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

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?

121

121 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

121 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).

91 in the last 10 years · high confidence · 55.8th percentile (publications denominator)

Phrase hits: 121 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

703

Distinct author names in 121 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Cooper DL7 papers · 2019

    Novo Nordisk Inc ., Plainsboro, NJ, USA.

    Papers in Europe PMC
  2. 02
    Leebeek FWG6 papers · 2025

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

    Papers in Europe PMC
  3. 03
    Castaman G5 papers · 2025

    Haemophilia and Thrombosis Centre, Department of Haematology, San Bortolo Hospital, Vicenza, Italy; Center for Bleeding Disorders, Careggi University Hospital, Florence, Italy;

    Papers in Europe PMC
  4. 04
    Mancuso ME5 papers · 2023

    Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.

    Papers in Europe PMC
  5. 05
    Berntorp E4 papers · 2025

    Lund University, Skane University Hospital, Malmo, Sweden.

    Papers in Europe PMC
  6. 06
    Buckner TW4 papers · 2021

    Hemophilia and Thrombosis Center, University of Colorado School of Medicine, Aurora, CO, USA.

    Papers in Europe PMC
  7. 07
    Cnossen MH4 papers · 2025

    Department of Pediatric Hematology, Sophia Children's Hospital, Erasmus University Medical Center, Rotterdam, The Netherlands.

    Papers in Europe PMC
  8. 08
    Guelcher C4 papers · 2019

    Hemostasis and Thrombosis Program, Center for Cancer and Blood Disorders, Children's National Health System, Washington, DC, USA.

    Papers in Europe PMC
  9. 09
    Monahan PE4 papers · 2018

    Shire, 650 East Kendall Street, Cambridge, MA, USA.

    Papers in Europe PMC
  10. 10
    Oldenburg J4 papers · 2025

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

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 120 trials are registered for hemophilia B, the broader category — shown separately because they may or may not enrol this specific subtype.

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

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

high confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

120 interventional trials matched hemophilia B, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: hemophilia B

120

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

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

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 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.

"Moderate hemophilia B" OR "Moderate congenital F9 deficiency" OR "Moderate congenital factor IX deficiency" OR "moderately severe factor IX deficiency" OR "moderately severe haemophilia type B" OR "moderately severe hemophilia type B"

Run this search on Europe PMC

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

"Moderate hemophilia B" OR "Moderate congenital F9 deficiency" OR "Moderate congenital factor IX deficiency" OR "moderately severe factor IX deficiency" OR "moderately severe haemophilia type B" OR "moderately severe hemophilia type B"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"hemophilia B"

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 2026-07-27T08:37:50.744Z