ORPHA:100020
Myelodysplastic neoplasm with increased blasts type 2
Also known as: MDS-IB2 · RAEB-2 · Refractory anemia with excess blasts type 2
Publications
1,433
Trials
14
Interventional, condition-specific
Researchers
1,864
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A very severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage , 10% to 19% blasts in bone marrow or 5% to 19% in peripheral blood, variable presence of Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0015041
- UMLS:C4704767
- NCIT:C7168
Additional Mondo synonyms (3)
MDS-EB-2 · RAEB-II · myelodysplastic syndrome with Excess blasts-2
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.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
1,433 matched papers (841 in last 10 years) Source
- Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPresent
14 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)
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 2026-07-27
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?
1,433
1,433 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
1,433 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).
841 in the last 10 years · low confidence
Phrase hits: 1,433 · MeSH hits: 0
Who's working on it?
1,864
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.
- 01Zhang Y14 papers · 2026
Department of Hematology, Nanfang Hospital, Southern Medical University, Guangzhou, China.
Papers in Europe PMC - 02Wang Y12 papers · 2026
Department of Hematology, Affiliated Hospital of Guizhou Medical University, Guiyang, China.
Papers in Europe PMC - 03
- 04Liu Y7 papers · 2026
Clinical Research Center, The First Affiliated Hospital of Guizhou University of Traditional Chinese Medicine, Guiyang, China.
Papers in Europe PMC - 05
- 06Park S6 papers · 2026
Univ. Grenoble Alpes, CNRS, Inserm, CHU Grenoble Alpes, IAB, Grenoble, France.
Papers in Europe PMC - 07Wang H6 papers · 2025
Department of Hematology, Xuanwu Hospital, Capital Medical University , ,
Papers in Europe PMC - 08Chen Y5 papers · 2026
Department of Hematology, Nanfang Hospital, Southern Medical University, Guangzhou, China.
Papers in Europe PMC - 09Germing U5 papers · 2026
Department of Hematology, Oncology, and Clinical Immunology, Heinrich-Heine-University, University Clinic, Düsseldorf, Germany.
Papers in Europe PMC - 10
Clinical research
Is a treatment being tested?
14
interventional trials for this specific condition
14 interventional trials matched this specific condition name; 4 currently recruiting in our sample.
Data as of 9 September 2026 · last trial check 9 August 2026
14 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 93.7th percentile).
low confidence · 93.7th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
14 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT03850574·RECRUITING·Clinical Trial to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Tuspetinib (HM43239) in Patients With Relapsed or Refractory Acute Myeloid Leukemia
Conditions: Leukemia, Myeloid, Acute · Refractory AML · Relapsed Adult AML · Myelodysplastic Syndrome With Excess Blasts-2·Matched via name phrase
- NCT05703542·RECRUITING·BXCL701 Phase 1 R/R Acute Myeloid Leukemia or Myelodysplastic Syndrome
Conditions: Acute Myeloid Leukemia · Myelodysplastic Syndrome With Excess Blasts-2·Matched via name phrase
- NCT04628026·RECRUITING·Phase III Study of Induction and Consolidation Chemotherapy With Venetoclax in Patients With Newly Diagnosed AML or MDS-EB-2
Conditions: Acute Myeloid Leukemia·Matched via name phrase
- NCT06329999·RECRUITING·A Prospective, Multicenter, and Exploratory Study of CMGV in the Treatment of Recurrent Adult AML and MDS-EB-2/Elder AML
Conditions: Recurrent Adult Acute Myeloid Leukemia · Myelodysplastic Syndrome · Adult Acute Myeloid Leukemia·Matched via name phrase
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 5 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 1 · uncertain 4 · dropped 0 · fetched 2026-07-27
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).
Broader / parent-category hits (1)
- isrctn·ISRCTN11036523·No longer recruiting·National Cancer Research Institute acute myeloid leukaemia and high risk MDS trial 16. A trial for older patients with acute myeloid leukaemia and high risk myelodysplastic syndrome (MDS).
Parent category — Both providers judged relevant only to a broader parent category.
Uncertain / not reviewed (4)
- ctis·2024-512503-39-00·Authorised, ongoing·MRD registry and multicenter, randomized controlled pragmatic trial of standard intensity versus reduced intensity consolidation treatment in MRD-negative patients with AML or CLL (RESOLVE trial).
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN31682779·No longer recruiting·A trial for older patients with acute myeloid leukaemia and high risk myelodysplastic syndrome
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN99131400·No longer recruiting·Safety, compliance with and activity of Bezafibrate and medroxyProgesterone acetate (BaP) as non-toxic therapy against myeloid and lymphoid cancers
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN40571019·No longer recruiting·Leukaemia Lymphoma Research and NCRI Working Group Pick a Winner Programme (LI-1) Trial
Uncertain — At least one provider returned uncertain or parent-category.
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 increased blasts type 2 — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This 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 increased blasts type 2" OR "MDS-IB2" OR "RAEB-2" OR "Refractory anemia with excess blasts type 2" OR "MDS-EB-2" OR "RAEB-II" OR "myelodysplastic syndrome with Excess blasts-2"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Myelodysplastic neoplasm with increased blasts type 2" OR "MDS-IB2" OR "RAEB-2" OR "Refractory anemia with excess blasts type 2" OR "MDS-EB-2" OR "RAEB-II" OR "myelodysplastic syndrome with Excess blasts-2"
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: 14 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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
- Publication count (1433) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-26T01:47:15.926Z