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ORPHA:101330

Porphyria cutanea tarda

medium confidenceDisorder

Also known as: PCT

Publications

3,868

86.9th percentile

Trials

4

Interventional, condition-specific

Researchers

913

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare hepatic porphyria with cutaneous expression (PCT) characterized by bullous photodermatosis.

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.

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

    3,868 matched papers (910 in last 10 years) Source

  3. Phenotype characterisedPresent

    93 HPO annotations (e.g. Abnormal circulating enzyme concentration or activity; Red-brown urine; Nonimmune hydrops fetalis) Source

  4. Animal modelPresent

    3 genotype models (Danio rerio, 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

    4 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)

93

Associated phenotypes · MONDO:0015104

  • Abnormal circulating enzyme concentration or activity
  • Red-brown urine
  • Nonimmune hydrops fetalis
  • Splenomegaly
  • Erythroid hyperplasia

Showing 5 of 93 — 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)

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

4

Drugs / clinical candidates · MONDO_0015104

CTD chemicals (MyDisease.info)

29 associated chemicals · 25 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Anastrozole · therapeutic
  • chloroquine diphosphate · therapeutic
  • Ethanol · therapeutic
  • Phenytoin · therapeutic
  • Barbiturates · marker/mechanism
  • Benzene · marker/mechanism
  • buthiopurine · marker/mechanism
  • Carbamazepine · marker/mechanism
  • Cisplatin · marker/mechanism
  • Colchicine · marker/mechanism
  • Contraceptives, Oral · marker/mechanism
  • Contraceptives, Oral, Combined · marker/mechanism

Pathways: Steroid hormone biosynthesis; Caffeine metabolism; Tryptophan metabolism; Linoleic acid metabolism; Retinol metabolism; Porphyrin and chlorophyll metabolism; Metabolism of xenobiotics by cytochrome P450; Drug metabolism - cytochrome P450

MyDisease.info · MONDO:0015104

Literature

Is anyone studying this?

3,868

3,868 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.

3,868 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).

910 in the last 10 years · medium confidence · 86.9th percentile (publications denominator)

Phrase hits: 3,868 · MeSH hits: 70

Open Europe PMC search

Who's working on it?

913

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
    Aarsand AK3 papers · 2025

    Department of Medical Biochemistry and Pharmacology, Haukeland University Hospital, Norwegian Porphyria Centre (NAPOS), P. O. Box 1400, 5021, Bergen, Norway.

    Papers in Europe PMC
  2. 02
    Anderson KE3 papers · 2026

    Division of Gastroenterology & Hepatology, Department of Internal Medicine, University of Texas Medical Branch, Galveston, TX, 77555-0655, USA.

    Papers in Europe PMC
  3. 03
    Bonkovsky HL3 papers · 2025

    Section On Gastroenterology & Hepatology, Department of Internal Medicine, Wake Forest University School of Medicine, E-112, NRC, 1 Medical Center Blvd, Winston-Salem, NC, 27157, USA. hbonkovs@wakehealth.edu.

    Papers in Europe PMC
  4. 04
    Frank J3 papers · 2024

    Department of Dermatology, Venereology and Allergology, University Hospital Göttingen, Göttingen, Germany.

    Papers in Europe PMC
  5. 05
    Leaf RK3 papers · 2026

    Harvard Medical School, Boston, Massachusetts, USA.

    Papers in Europe PMC
  6. 06
    Rudnick S3 papers · 2024

    Wake Forest University School of Medicine;, Atrium Health Wake Forest Baptist, Winston-Salem, North Carolina

    Papers in Europe PMC
  7. 07
    Sandberg S3 papers · 2025

    Department of Medical Biochemistry and Pharmacology, Haukeland University Hospital, Norwegian Porphyria Centre (NAPOS), P. O. Box 1400, 5021, Bergen, Norway.

    Papers in Europe PMC
  8. 08
    Stölzel U3 papers · 2025

    Porphyrie Zentrum, Klinikum Chemnitz gGmbH, Flemmingstr. 2, 09009, Chemnitz, Deutschland. dr.stoelzel@porphyrie.de.

    Papers in Europe PMC
  9. 09
    Amini-Adle M2 papers · 2024

    Department of Oncodermatology, Centre Léon Bérard, Lyon, France.

    Papers in Europe PMC
  10. 10
    Awad A2 papers · 2022

    Sinclair Dermatology, East Melbourne, VIC, 3002, Australia.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; none in our sample are currently recruiting. 17 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

4 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 88.1th percentile).

medium confidence · 88.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

4 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: porphyria

17

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

2 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.

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 5 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 5 · 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 (5)

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 Porphyria cutanea tarda — 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.

"Porphyria cutanea tarda"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Porphyria Cutanea Tarda

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

"Porphyria cutanea tarda"

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: 4 interventional · 2 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: PCT

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

Ingested 2026-07-27T07:21:37.154Z