RARE DISEASERESEARCH ATLAS
Open navigation menu

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

2/6

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.”

2/6 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 characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

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=5449) is 41.

8,077 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

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 27 July 2026

63 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 97.6th percentile).

low confidence · 97.6th 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

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

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