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ORPHA:79277

Congenital erythropoietic porphyria

low confidenceDisorder

Also known as: CEP · Günther disease

Publications

4,437

Trials

1

Interventional, condition-specific

Researchers

916

Distinct authors in sample

Gene link

UROS

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare erythropoietic porphyria characterized by a non-photoalgesic, polymorphic, mutilating and very severe photodermatosis.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

Congenital Erythropoietic Porphyria · UROS-related erythropoietic porphyria · cutaneous porphyria · erythropoietic porphyria

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — UROS

  2. LiteraturePresent

    4,437 matched papers (2,526 in last 10 years) Source

  3. Phenotype characterisedPresent

    80 HPO annotations (e.g. Corneal ulceration; Scarring; Nonimmune hydrops fetalis) Source

  4. Animal modelPresent

    3 genotype models (Mus musculus) Source

  5. Orphan designationPresent

    1 FDA · 2 EMA designations (1 FDA orphan-indication approval) — e.g. Ciclopirox Source

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov (1 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?

Yes — we know a specific gene responsible (UROS).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

80

Associated phenotypes · MONDO:0009902

  • Corneal ulceration
  • Scarring
  • Nonimmune hydrops fetalis
  • Thickened skin
  • Hyperpigmentation of the skin

Showing 5 of 80 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

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)

3

Designations · 1 with FDA orphan-indication approval

  • FDA Ciclopiroxcongenital erythropoietic porphyria · 2018-04-17 · Not FDA Approved for Orphan Indication
  • EMA ciclopiroxTreatment of congenital erythropoietic porphyria · 17/01/2018 · PositiveEMA designation
  • EMA unknownTreatment of congenital erythropoietic porphyria · 08/05/2008 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

3

Drugs / clinical candidates · MONDO_0009902

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

4,437

4,437 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.

4,437 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).

2,526 in the last 10 years · low confidence

Phrase hits: 1,334 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

916

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
    Gouya L12 papers · 2024

    UMRs 1149, Centre de Recherche sur l'Inflammation, Institut National de la Santé et de la Recherche Médicale, Université Paris Diderot, Paris, France.

    Papers in Europe PMC
  2. 02
    Puy H11 papers · 2024

    Centre Français des Porphyries, Assistance Publique-Hôpitaux de Paris (APHP), Université de Paris Cité, INSERM U1149, Paris, France.

    Papers in Europe PMC
  3. 03
    Ged C10 papers · 2024

    Université de Bordeaux.

    Papers in Europe PMC
  4. 04
    Richard E9 papers · 2024

    Univ Bordeaux, Bordeaux 33000, France; INSERM U1035, Biotherapy of Genetic Diseases, Inflammatory Disorders and Cancers, Bordeaux 33000, France; Biochemistry Laboratory, CHU Bordeaux, Bordeaux 33000, France; Laboratory of Excellence, GR-Ex, Imagine Institute, Paris 75015, France.

    Papers in Europe PMC
  5. 05
    Blouin JM8 papers · 2024

    Univ Bordeaux, Bordeaux 33000, France; INSERM U1035, Biotherapy of Genetic Diseases, Inflammatory Disorders and Cancers, Bordeaux 33000, France; Biochemistry Laboratory, CHU Bordeaux, Bordeaux 33000, France; Laboratory of Excellence, GR-Ex, Imagine Institute, Paris 75015, France.

    Papers in Europe PMC
  6. 06
    Millet O8 papers · 2024

    Structural Biology Unit and Metabolomics Unit, CIC bioGUNE, Bizkaia Technology Park, Building 800-801A, Derio 48160, Spain and omillet@cicbiogune.es.

    Papers in Europe PMC
  7. 07
    Poli A7 papers · 2024

    Institut National de la Santé et de la Recherche Médicale U1149, Centre de Recherche sur l'Inflammation, Paris, France.

    Papers in Europe PMC
  8. 08
    Schmitt C7 papers · 2025

    Institut National de la Santé et de la Recherche Médicale U1149, Centre de Recherche sur l'Inflammation, Paris, France.

    Papers in Europe PMC
  9. 09
    Bernardo-Seisdedos G6 papers · 2022

    Precision Medicine and Metabolism Laboratory, CIC bioGUNE, Basque Research and Technology Alliance (BRTA), Bizkaia Science and Technology Park, 48160 Derio, Spain.

    Papers in Europe PMC
  10. 10
    Desnick RJ6 papers · 2024

    Department of Genetics and Genome Sciences, Ichan School of Medicine at Mount Sinai, New York, NY; and.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample. 20 trials are registered for porphyria, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: porphyria

20

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

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.

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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · 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 (3)

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 Congenital erythropoietic porphyria — 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.

("Congenital erythropoietic porphyria" OR "Günther disease" OR "UROS-related erythropoietic porphyria" OR "cutaneous porphyria" OR "erythropoietic porphyria") OR (MESH:"Porphyria, Erythropoietic") OR ("UROS" OR "UROS syndrome" OR "UROS-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Porphyria, Erythropoietic

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

"Congenital erythropoietic porphyria" OR "Günther disease" OR "UROS-related erythropoietic porphyria" OR "cutaneous porphyria" OR "erythropoietic porphyria" OR "Porphyria, Erythropoietic"

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: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"porphyria"

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: CEP

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (4437) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T02:11:50.588Z