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ORPHA:98826

Myelodysplastic neoplasm with low blasts

low confidenceDisorder

Also known as: MDS-LB · Refractory anemia

Publications

8,077

Trials

63

Interventional, condition-specific

Researchers

1,601

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Refractory cytopenias with unilineage (RCUD) is a frequent low-risk subtype of myelodysplastic syndrome (MDS) characterized by refractory cytopenias associated with limited to one cell lineage.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

MDS with single lineage dysplasia · MDS-SLD · RA · refractory anaemia · refractory anemia

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

    8,077 matched papers (2,735 in last 10 years) Source

  3. Phenotype characterisedPresent

    14 HPO annotations (e.g. Anemia of inadequate production; Macrocytic anemia; Normocytic anemia) 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

    63 matched on ClinicalTrials.gov (4 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)

14

Associated phenotypes · MONDO:0005272

  • Anemia of inadequate production
  • Macrocytic anemia
  • Normocytic anemia
  • Abnormal cardiac ventricular function
  • Thrombocytopenia

Showing 5 of 14 — 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

2

Drugs / clinical candidates · MONDO_0005272

CTD chemicals (MyDisease.info)

1 associated chemical · 66 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Azathioprine · marker/mechanism

Pathways: Antifolate resistance; MAPK signaling pathway; Cytokine-cytokine receptor interaction; NF-kappa B signaling pathway; Sphingolipid signaling pathway; mTOR signaling pathway; Apoptosis; TGF-beta signaling pathway

MyDisease.info · MONDO:0005272

Literature

Is anyone studying this?

8,077

8,077 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.

8,077 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).

2,735 in the last 10 years · low confidence

Phrase hits: 8,068 · MeSH hits: 17

Open Europe PMC search

Who's working on it?

1,601

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
    Zhang Y8 papers · 2026

    The Innovation Centre of Ministry of Education for Development and Diseases, School of Medicine, South China University of Technology, Guangzhou, China.

    Papers in Europe PMC
  2. 02
    Wang H7 papers · 2026

    Department of Hematology, The Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai, China.

    Papers in Europe PMC
  3. 03
    Germing U5 papers · 2026

    Department of Hematology, Oncology and Clinical Immunology Heinrich-Heine-Universität Düsseldorf Germany.

    Papers in Europe PMC
  4. 04
    Guo J5 papers · 2026

    Department of Hematology, Shanghai JiaoTong University Affiliated Sixth People's Hospital, Shanghai 200233, China.

    Papers in Europe PMC
  5. 05
    Hou HA5 papers · 2026

    Division of Hematology, Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan. hsinanhou@ntu.edu.tw.

    Papers in Europe PMC
  6. 06
    Jin J5 papers · 2026

    Department of Hematology, the First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China. jiej0503@zju.edu.cn.

    Papers in Europe PMC
  7. 07
    Shi C5 papers · 2024

    Department of Hematology, Ningbo First Hospital, Ningbo, Zhejiang, PR China.

    Papers in Europe PMC
  8. 08
    Tien HF5 papers · 2026

    Division of Hematology, Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan.

    Papers in Europe PMC
  9. 09
    Tsai XC5 papers · 2026

    Division of Hematology, Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan.

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

    Department of Hematology, Shanghai JiaoTong University Affiliated Sixth People's Hospital, Shanghai 200233, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

63

interventional trials for this specific condition

63 interventional trials matched this specific condition name; 4 currently recruiting in our sample.

Data as of 11 September 2026

63 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 97.7th percentile).

low confidence · 97.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

4 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 20 · 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 Myelodysplastic neoplasm with low blasts — 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.

"Myelodysplastic neoplasm with low blasts" OR "MDS-LB" OR "Refractory anemia" OR "MDS with single lineage dysplasia" OR "MDS-SLD" OR "refractory anaemia"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Anemia, Refractory

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

"Myelodysplastic neoplasm with low blasts" OR "MDS-LB" OR "Refractory anemia" OR "MDS with single lineage dysplasia" OR "MDS-SLD" OR "refractory anaemia" OR "Anemia, Refractory"

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

Study-type breakdown: 63 interventional · 4 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: RA

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (8077) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T05:29:00.269Z