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ORPHA:93930

Classic bladder exstrophy

high confidenceSubtype of disorder

Also known as: Classic exstrophy of the bladder

Publications

4,201

88.8th percentile

Trials

7

Interventional, condition-specific

Researchers

918

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A subtype of exstrophy-epispadias complex (EEC) characterized by an open bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and the abdominal wall.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (4)

bladder exstrophy · bladder exstrophy (disease) · classic exstrophy of the bladder · ectopia vesicae

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.”

4/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    4,201 matched papers (1,301 in last 10 years) Source

  3. Phenotype characterisedPresent

    13 HPO annotations (e.g. Umbilical hernia; Intestinal malrotation; Recurrent urinary tract infections) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    7 matched on ClinicalTrials.gov (3 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)

13

Associated phenotypes · MONDO:0010805

  • Umbilical hernia
  • Intestinal malrotation
  • Recurrent urinary tract infections
  • Inguinal hernia
  • Epispadias

Showing 5 of 13 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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)

3 associated chemicals. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Finasteride · marker/mechanism
  • Medroxyprogesterone · marker/mechanism
  • Phenytoin · marker/mechanism

MyDisease.info · MONDO:0010805

Literature

Is anyone studying this?

4,201

4,201 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.

4,201 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).

1,301 in the last 10 years · high confidence · 88.8th percentile (publications denominator)

Phrase hits: 4,201 · MeSH hits: 135

Open Europe PMC search

Who's working on it?

918

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.

  1. 01
    Gearhart JP34 papers · 2026

    The James Buchanan Brady Urological Institute, Division of Pediatric Urology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

    Papers in Europe PMC
  2. 02
    Haffar A17 papers · 2026

    The James Buchanan Brady Urological Institute, Division of Pediatric Urology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

    Papers in Europe PMC
  3. 03
    Crigger C12 papers · 2025

    Jeffs Division of Pediatric Urology, The Brady Urological Institute, Johns Hopkins Hospital, Baltimore, MD, USA. chad.b.crigger@gmail.com.

    Papers in Europe PMC
  4. 04
    Crigger CB11 papers · 2026

    The James Buchanan Brady Urological Institute, Division of Pediatric Urology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

    Papers in Europe PMC
  5. 05
    Di Carlo HN10 papers · 2026

    The James Buchanan Brady Urological Institute, Division of Pediatric Urology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

    Papers in Europe PMC
  6. 06
    Harris TGW9 papers · 2024

    Division of Plastic Surgery, The Johns Hopkins University School of Medicine, Baltimore, MD.

    Papers in Europe PMC
  7. 07
    Heap D7 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, USA.

    Papers in Europe PMC
  8. 08
    Maxon V7 papers · 2026

    The James Buchanan Brady Urological Institute, Division of Pediatric Urology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

    Papers in Europe PMC
  9. 09
    Morrill C7 papers · 2024

    James Buchanan Brady Urological Institute, Division of Pediatric Urology, Charlotte Bloomberg Children's Hospital, The Johns Hopkins University School of Medicine, Baltimore, MD.

    Papers in Europe PMC
  10. 10
    Morrill CC7 papers · 2024

    James Buchanan Brady Urological Institute, Jeffs Division of Pediatric Urology, Douglas A. Canning M.D. Exstrophy Database Center, Charlotte Bloomberg Children's Hospital, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

7

interventional trials for this specific condition

7 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 11 September 2026

7 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.9th percentile).

high confidence · 90.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

7 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

8 observational studies match 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.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Classic bladder exstrophy — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

"Classic bladder exstrophy" OR "Classic exstrophy of the bladder" OR "Classic exstrophy of bladder" OR "bladder exstrophy" OR "bladder exstrophy (disease)" OR "ectopia vesicae"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Bladder Exstrophy

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Classic bladder exstrophy" OR "Classic exstrophy of the bladder" OR "Classic exstrophy of bladder" OR "bladder exstrophy" OR "bladder exstrophy (disease)" OR "ectopia vesicae"

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: 7 interventional · 8 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 2026-07-27T04:32:16.994Z