ORPHA:314950
Primary hypereosinophilic syndrome
Also known as: Clonal hypereosinophilic syndrome · HES-M · HES-N · Neoplastic hypereosinophilic syndrome · Primary HES
Publications
603
79.4th 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 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 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)
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 2026-07-29
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
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?
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=3967) is 59.
603 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).
357 in the last 10 years · high confidence · 79.4th 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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
high confidence · 38.6th 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
- 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
- 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
- NCT05334368·RECRUITING·Depemokimab in Participants With Hypereosinophilic Syndrome, Efficacy, and Safety Trial
Conditions: Hypereosinophilic Syndrome·Matched via name phrase
- NCT07444567·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
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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · 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 (2)
- isrctn·ISRCTN17701271·Not yet recruiting·129Xenon MRI study of the effects of Mepolizumab on inflammation in the lungs of patients with chronic obstructive pulmonary disease (COPD)
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN18210817·No longer recruiting·Measuring response to inhaled asthma therapy using pulmonary imaging
skipped — LLM skipped (--skip-llm)
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 Primary hypereosinophilic syndrome — 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.
"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