ORPHA:93928
Isolated epispadias
Publications
2,446
92.8th percentile
Trials
5
Interventional, condition-specific
Researchers
943
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A subtype of exstrophy-epispadias complex (EEC) characterized in males by an open urethra on the dorsum of the penis and in females by a bifid clitoris and variable cleft of the urethra.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019759
- MeSH:D004842
- UMLS:C0014588
- NCIT:C98923
Additional Mondo synonyms (2)
epispadias · epispadias (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
2,446 matched papers (881 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
5 matched on ClinicalTrials.gov (2 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?
2,446
2,446 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.
2,446 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).
881 in the last 10 years · high confidence · 92.8th percentile (publications denominator)
Phrase hits: 2,446 · MeSH hits: 93
Who's working on it?
943
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.
- 01Gearhart JP12 papers · 2026
James Buchanan Brady Urological Institute, Division of Pediatric Urology, Douglas A. Canning MD Exstrophy Database Center, Charlotte Bloomberg Children's Hospital, The Johns Hopkins Medical Institutions, Baltimore, MD, USA.
Papers in Europe PMC - 02Crigger CB8 papers · 2026
James Buchanan Brady Urological Institute, Division of Pediatric Urology, Douglas A. Canning MD Exstrophy Database Center, Charlotte Bloomberg Children's Hospital, Johns Hopkins University School of Medicine.
Papers in Europe PMC - 03Haffar A8 papers · 2026
James Buchanan Brady Urological Institute, Division of Pediatric Urology, Douglas A. Canning MD Exstrophy Database Center, Charlotte Bloomberg Children's Hospital, The Johns Hopkins Medical Institutions, Baltimore, MD, USA.
Papers in Europe PMC - 04Heap D Jr6 papers · 2026
Robert D. Jeffs Division of Pediatric Urology, James Buchanan Brady Urological Institutions, Johns Hopkins Hospital, Johns Hopkins Medical Institutions, Charlotte Bloomberg Children's Hospital, Baltimore, MD.
Papers in Europe PMC - 05Di Carlo H5 papers · 2026
Department of Pediatric Urology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
Papers in Europe PMC - 06Maxon V5 papers · 2025
Robert D. Jeffs Division of Pediatric Urology, James Buchanan Brady Urological Institutions, Johns Hopkins Hospital, Johns Hopkins Medical Institutions, Charlotte Bloomberg Children's Hospital, Baltimore, MD.
Papers in Europe PMC - 07Robey C5 papers · 2026
Robert D. Jeffs Division of Pediatric Urology, James Buchanan Brady Urological Institutions, Johns Hopkins Hospital, Johns Hopkins Medical Institutions, Charlotte Bloomberg Children's Hospital, Baltimore, MD.
Papers in Europe PMC - 08Shukla AR5 papers · 2026
Division of Urology Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Papers in Europe PMC - 09Weiss DA5 papers · 2026
Division of Urology Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Papers in Europe PMC - 10Alliot H4 papers · 2025
Department of Pediatric Surgery and Urology, National Reference Center for Rare Urinary Tract Malformations (MARVU), University Hospital Robert-Debre, APHP, Université Paris Cité, Paris, France.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
5
interventional trials for this specific condition
5 interventional trials matched this specific condition name; 2 currently recruiting in our sample.
Data as of 27 July 2026
5 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 87.9th percentile).
high confidence · 87.9th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
5 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT04729582·NOT YET RECRUITING·Autologous Muscle Stem Cell Therapy for Treatment of Congenital Urinary Incontinence in Epispadias Patients
Conditions: Urinary Incontinence · Epispadias, Male·Matched via name + MeSH
- NCT04935918·RECRUITING·EVALUATION OF THE SAFETY AND EFFICACY OF ADJUSTABLE CONTINENCE THERAPY BALLOONS IN BLADDER EXSTROPHY AND INCONTINENT EPISPADIAS PATIENTS
Conditions: Bladder Exstrophy·Matched via name + MeSH
Observational and natural-history studies
1 observational study matches 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.
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.
"Isolated epispadias" OR "epispadias" OR "epispadias (disease)"
MeSH descriptor terms unioned into the query: Epispadias
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Isolated epispadias" OR "epispadias" OR "epispadias (disease)"
Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 5 interventional · 1 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
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 2026-07-27T04:31:47.566Z