ORPHA:180275
Paget disease of the nipple
Also known as: Mammary Paget disease · Paget disease of the breast · Paget's disease of the nipple
Publications
994
84.9th percentile
Trials
2
Interventional, condition-specific
Researchers
998
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Paget disease of the nipple describes a rare presentation of breast cancer, seen most frequently in women aged 50-60, manifesting with nipple drainage and itching, erythema, crusty and excoriated nipple, thickened plaques, and hyperpigmentation (less frequently). It is due to tumor cells invading the nipple-areola complex and represents 1-3% of all new breast cancer diagnoses.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0015873
- UMLS:C1704323
- NCIT:C3301
Additional Mondo synonyms (2)
Paget's disease of nipple · nipple Paget's disease
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
994 matched papers (301 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 trialPresent
2 matched on ClinicalTrials.gov
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?
994
994 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.
994 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).
301 in the last 10 years · high confidence · 84.9th percentile (publications denominator)
Phrase hits: 994 · MeSH hits: 0
Who's working on it?
998
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.
- 01
- 02Cantisani C3 papers · 2025
UOC of Dermatology, Policlinico Umberto I Hospital, Sapienza Medical School of Rome, 00161 Roma, Italy.
Papers in Europe PMC - 03Caruso G3 papers · 2025
Unit of Cellular Pathology, San Filippo Neri Hospital of Rome, 00135 Roma, Italy.
Papers in Europe PMC - 04
- 05Longo C3 papers · 2025
Department of Dermatology, University of Modena and Reggio Emilia, 41121 Modena, Italy.
Papers in Europe PMC - 06Pellacani G3 papers · 2025
UOC of Dermatology, Policlinico Umberto I Hospital, Sapienza Medical School of Rome, 00161 Roma, Italy.
Papers in Europe PMC - 07
- 08Taliano A3 papers · 2025
UOC of Dermatology, Policlinico Umberto I Hospital, Sapienza Medical School of Rome, 00161 Roma, Italy.
Papers in Europe PMC - 09Akay BN2 papers · 2025
Faculty of Medicine, Department of Dermatology, Ankara University, Ankara, Turkey.
Papers in Europe PMC - 10Bang Dalen CE2 papers · 2026
Department of Pathology, Drammen Hospital, Vestre Viken Hospital Trust, Drammen, Norway.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; none in our sample are currently recruiting. 12 trials are registered for Paget disease, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
high confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Broader category: Paget disease
12
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
- NCT03713203·RECRUITING·PAGETEX® Photodynamic Therapy Device for the Treatment of Extra Mammary Paget's Disease of the Vulva (EMPV).
Conditions: Paget Disease of the Vulva · Paget Disease, Extramammary·Matched via name phrase
- NCT06791070·RECRUITING·A Study of RC48-ADC Combined With JS001 for Advanced Extramammary Paget Disease of the Scrotum
Conditions: Paget Disease, Extramammary · Scrotum Disease·Matched via name phrase
- NCT06683846·RECRUITING·Ivonescimab in the Treatment of Multiple Advanced Tumors
Conditions: Pheochromocytoma/Paraganglioma · Rhabdomyosarcoma · Paget Disease, Extramammary · Renal Angiomyolipoma·Matched via name phrase
- NCT06684327·RECRUITING·Multi-cohort, Single-arm Phase II Study of Albumin-paclitaxel, Ifosfamide, and Cisplatin in the Treatment of Rare Advanced Tumors
Conditions: Paget Disease, Extramammary · Rhabdomyosarcoma · Testicular Cancer · Penile Cancer·Matched via name phrase
- NCT05859074·RECRUITING·A Study of MQ710 With and Without Pembrolizumab in People With Solid Tumor Cancer
Conditions: Cutaneous Squamous Cell Carcinoma · SCC - Squamous Cell Carcinoma · Basal Cell Carcinoma · BCC·Matched via name phrase
- NCT07117851·RECRUITING·A Study of Disitamab Vedotin + Bicalutamide in HER2/AR-Positive Scrotal Paget's Disease
Conditions: Extramammary Paget Disease · Scrotum Disease·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.
"Paget disease of the nipple" OR "Paget disease of nipple" OR "Mammary Paget disease" OR "Paget disease of the breast" OR "Paget disease of breast" OR "Paget's disease of the nipple" OR "Paget's disease of nipple" OR "nipple Paget's disease"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Paget disease of the nipple" OR "Paget disease of nipple" OR "Mammary Paget disease" OR "Paget disease of the breast" OR "Paget disease of breast" OR "Paget's disease of the nipple" OR "Paget's disease of nipple" OR "nipple Paget's disease"
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: 2 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"Paget disease"
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 2026-07-27T09:05:28.817Z