ORPHA:101330
Porphyria cutanea tarda
Also known as: PCT
Publications
3,868
92.9th percentile
Trials
4
Interventional, condition-specific
Researchers
913
Distinct authors in sample
Gene link
—
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0015104
- MeSH:D017119
- UMLS:C0162566
- NCIT:C27725
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
3,868 matched papers (910 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
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)
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?
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=5449) is 41.
3,868 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).
910 in the last 10 years · medium confidence · 92.9th percentile (publications denominator)
Phrase hits: 3,868 · MeSH hits: 70
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.
- 01Aarsand 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 - 02Anderson 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 - 03Bonkovsky 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 - 04Frank J3 papers · 2024
Department of Dermatology, Venereology and Allergology, University Hospital Göttingen, Göttingen, Germany.
Papers in Europe PMC - 05
- 06Rudnick S3 papers · 2024
Wake Forest University School of Medicine;, Atrium Health Wake Forest Baptist, Winston-Salem, North Carolina
Papers in Europe PMC - 07Sandberg 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 - 08Stölzel U3 papers · 2025
Porphyrie Zentrum, Klinikum Chemnitz gGmbH, Flemmingstr. 2, 09009, Chemnitz, Deutschland. dr.stoelzel@porphyrie.de.
Papers in Europe PMC - 09Amini-Adle M2 papers · 2024
Department of Oncodermatology, Centre Léon Bérard, Lyon, France.
Papers in Europe PMC - 10Awad 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 27 July 2026
4 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 86.7th percentile).
medium confidence · 86.7th 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
- NCT07024316·RECRUITING·A Study to Investigate the Improvement of Photosensitivity in Terms of Skin Lesions Associated With CEP Following Administration of Oral ATL-001 (Ciclopirox Oral Solution) in Participants Aged >18 Years of Age With CEP
Conditions: Congenital Erythropoietic Porphyria (CEP)·Matched via name phrase
- NCT06273644·RECRUITING·Clinical Research on Acute Intermittent Porphyria and the Use of Carbohydrate-Rich Diet as a Treatment
Conditions: Porphyria, Acute Intermittent·Matched via name phrase
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.
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.
"Porphyria cutanea tarda"
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