ORPHA:314950
Primary hypereosinophilic syndrome
Also known as: Clonal hypereosinophilic syndrome · HES-M · HES-N · Neoplastic hypereosinophilic syndrome · Primary HES
Publications
603
87th percentile
Trials
0
Interventional, condition-specific
Researchers
1,377
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare hypereosinophilic syndrome characterized by hypereosinophilia produced by clonal eosinophils derived from neoplastic stem cells in the absence of any secondary cause of eosinophilia and persisting for at least six months. The condition is associated with signs of organ infiltration, dysfunction, and damage. Clinical manifestations are highly variable, depending on the organ systems involved, and include dermatologic, pulmonary, cardiac, gastrointestinal, and cerebral manifestations, among others.
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:0017833
- UMLS:C5679898
Additional Mondo synonyms (3)
clonal hypereosinophilic syndrome · neoplastic hypereosinophilic syndrome · primary HES
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.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
603 matched papers (357 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPartial
None under the specific name; 28 for broader category hypereosinophilic syndrome
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?
603
603 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=5449) is 41.
603 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).
357 in the last 10 years · high confidence · 87th percentile (publications denominator)
Phrase hits: 603 · MeSH hits: 0
Who's working on it?
1,377
Distinct author names in 200 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.
- 01Khoury P8 papers · 2026
Laboratory of Parasitic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
Papers in Europe PMC - 02Klion AD6 papers · 2026
Laboratory of Parasitic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md. Electronic address: amy.klion@nih.gov.
Papers in Europe PMC - 03Liu Y5 papers · 2026
Department of Internal Medicine, Shandong Rongjun General Hospital, Jinan, China.
Papers in Europe PMC - 04Caminati M4 papers · 2025
Department of Medicine, University of Verona & AOUI Verona, Policlinico GB Rossi, Piazzale L.A. Scuro, 10, 37134, Verona, Italy. marco.caminati@univr.it.
Papers in Europe PMC - 05Groh M4 papers · 2025
National Referral Center for Hypereosinophilic Syndromes (CEREO), Suresnes, France; Department of Internal Medicine, Foch Hospital, Suresnes, France; University Lille, CHU Lille, INSERM, U1286-INFINITE-Institute for Translational Research in Inflammation, Lille, France. Electronic address: m.groh@hopital-foch.com.
Papers in Europe PMC - 06Kahn JE4 papers · 2025
National Referral Center for Hypereosinophilic Syndromes (CEREO), Suresnes, France; Internal Medicine Department, Ambroise Paré Hospital, AP-HP. 9, Boulogne, France; Infection and Inflammation, UMR 1173, INSERM, UVSQ/Paris Saclay University, Montigny-le-Bretonneux, France.
Papers in Europe PMC - 07Zhang J4 papers · 2026
Key Laboratory of Cognition and Personality, Ministry of Education, Southwest University, Chongqing 400715, China.
Papers in Europe PMC - 08
- 09Brown T3 papers · 2026
Laboratory of Parasitic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
Papers in Europe PMC - 10
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). 28 trials are registered for hypereosinophilic syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
28 interventional trials matched hypereosinophilic syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: hypereosinophilic syndrome
28
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
- NCT05334368·RECRUITING·Depemokimab in Participants With Hypereosinophilic Syndrome, Efficacy, and Safety Trial
Conditions: Hypereosinophilic Syndrome·Matched via name phrase
- NCT07275190·RECRUITING·The Use of Machine Learning Techniques for the Differential Diagnosis Between Eosinophilic Granulomatosis With Polyangiitis and Hypereosinophilic Syndrome
Conditions: EGPA - Eosinophilic Granulomatosis With Polyangiitis · HES - Hypereosinophilic Syndrome·Matched via name phrase
- NCT07444567·NOT YET RECRUITING·Roll-over Study for Participants Who Have Completed a Previous Clinical Study With Benralizumab (Fasenra) and Benefit From Continued Treatment
Conditions: Asthma · Eosinophilic Granulomatosis With Polyangiitis (EGPA) · Hypereosinophilic Syndrome (HES)·Matched via name phrase
- NCT06477653·RECRUITING·Dupilumab as Add-On Therapy for Hypereosinophilic Syndrome With Partial Clinical Response to Eosinophil-Depleting Biologic Agents
Conditions: Hypereosinophilic Syndrome·Matched via name phrase
- NCT03801434·RECRUITING·Ruxolitinib in Treating Patients With Hypereosinophilic Syndrome or Primary Eosinophilic Disorders
Conditions: BCR-JAK2 Fusion Protein Expression · Blasts 20 Percent or Less of Peripheral Blood White Cells · Blasts More Than 5 Percent of Bone Marrow Nucleated Cells · Blasts More Than 5 Percent of Peripheral Blood White Cells·Matched via name phrase
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 2026-07-26This 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.
"Primary hypereosinophilic syndrome" OR "Clonal hypereosinophilic syndrome" OR "HES-M" OR "HES-N" OR "Neoplastic hypereosinophilic syndrome" OR "Primary HES"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Primary hypereosinophilic syndrome" OR "Clonal hypereosinophilic syndrome" OR "HES-M" OR "HES-N" OR "Neoplastic hypereosinophilic syndrome" OR "Primary HES"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"hypereosinophilic syndrome"
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 2026-07-27T13:14:55.869Z