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ORPHA:88

Idiopathic aplastic anemia

high confidenceDisorder

Also known as: Idiopathic bone marrow failure

Publications

471

69.3th percentile

Trials

2

Interventional, condition-specific

Researchers

1,380

Distinct authors in sample

Gene link

NBN

Limited

Readiness

4/6

Stages with a signal

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 (2)

idiopathic aplastic aplasia · idiopathic bone marrow failure

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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Limited — NBN

  2. LiteraturePresent

    471 matched papers (217 in last 10 years) Source

  3. Phenotype characterisedPresent

    12 HPO annotations (e.g. Gingival bleeding; Epistaxis; Pancytopenia) 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

    2 matched on ClinicalTrials.gov (2 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?

Possibly — only limited evidence so far for NBN.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

12

Associated phenotypes · MONDO:0012197

  • Gingival bleeding
  • Epistaxis
  • Pancytopenia
  • Autoimmune antibody positivity
  • Thrombocytopenia

Showing 5 of 12 — 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

4

Drugs / clinical candidates · MONDO_0012197

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

471

471 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.

471 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).

217 in the last 10 years · high confidence · 69.3th percentile (publications denominator)

Phrase hits: 459 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,380

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
    Matsuda A8 papers · 2025

    Department of Hemato-Oncology, International Medical Center, Saitama Medical University, Saitama, Japan.

    Papers in Europe PMC
  2. 02
    Pagliuca S8 papers · 2024

    Hematology and Transplantation Unit, Saint Louis Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.

    Papers in Europe PMC
  3. 03
    Mitani K7 papers · 2025

    Department of Hematology and Oncology, Dokkyo Medical University, Tochigi, Japan.

    Papers in Europe PMC
  4. 04
    Miyazaki Y7 papers · 2025

    Department of Hematology, Atomic Bomb Disease and Hibakusha Medicine Unit, Atomic Bomb Disease Institute, Nagasaki University, Nagasaki, Japan.

    Papers in Europe PMC
  5. 05
    Nakao S7 papers · 2025

    Department of Cellular Transplantation Biology, Kanazawa University Graduate School of Medicine, Kanazawa, Japan.

    Papers in Europe PMC
  6. 06
    Risitano AM7 papers · 2022

    Hematology, Department of Clinical Medicine and Surgery, Federico II University of Naples , Italy.

    Papers in Europe PMC
  7. 07
    Tohyama K7 papers · 2025

    Department of Laboratory Medicine, Kawasaki Medical School, Okayama, Japan.

    Papers in Europe PMC
  8. 08
    Kawabata H6 papers · 2025

    Department of Hematology and Oncology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

    Papers in Europe PMC
  9. 09
    Kurokawa M6 papers · 2025

    Department of Hematology and Oncology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.

    Papers in Europe PMC
  10. 10
    Ozawa K6 papers · 2025

    Division of Hematology, Jichi Medical University, Tochigi, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; 2 currently recruiting in our sample. 255 trials are registered for aplastic anemia, 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

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

high confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: aplastic anemia

255

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 12 · after dedupe 12 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 12 · dropped 0 · fetched 2026-07-29

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 (12)

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 Idiopathic aplastic anemia — 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.

("Idiopathic aplastic anemia" OR "Idiopathic bone marrow failure" OR "idiopathic aplastic aplasia") OR ("NBN syndrome" OR "NBN-related")

Run this search on Europe PMC

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

"Idiopathic aplastic anemia" OR "Idiopathic bone marrow failure" OR "idiopathic aplastic aplasia"

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

Parent-category trials query:

"aplastic anemia"

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 2026-07-26T12:22:32.071Z