ORPHA:443057
Sporadic porphyria cutanea tarda
Also known as: Porphyria cutanea tarda type I
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
140
38.6th percentile
Trials
0
Interventional, condition-specific
Researchers
541
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008295
- MeSH:C566768
- OMIM:176090
- UMLS:C1867968
Additional Mondo synonyms (2)
acquired porphyria cutanea tarda · porphyria cutanea tarda type I
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
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
140 matched papers (22 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 trialPartial
None under the specific name; 4 for broader category porphyria cutanea tarda
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?
140
140 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
140 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).
22 in the last 10 years · high confidence · 38.6th percentile (publications denominator)
Phrase hits: 140 · MeSH hits: 0
Who's working on it?
541
Distinct author names in 140 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Kushner JP8 papers · 2009Papers in Europe PMC
- 02Edwards CQ7 papers · 2016
Department of Medicine, Intermountain Medical Center and University of Utah, Salt Lake City, UT, USA. Electronic address: corwin.edwards@imail.org.
Papers in Europe PMC - 03Elder GH7 papers · 2000Papers in Europe PMC
- 04
- 05Griffen LM4 papers · 1989Papers in Europe PMC
- 06Herrero C4 papers · 2010Papers in Europe PMC
- 07Puy H4 papers · 2018
Centre Francais des Porphyries, Hôpital Louis Mourier, Assistance Publique-Hôpitaux de Paris, Colombes, France.
Papers in Europe PMC - 08Roberts AG4 papers · 2000
Department of Medical Biochemistry, University of Wales College of Medicine, Cardiff.
Papers in Europe PMC - 09Skolnick MH4 papers · 1989Papers in Europe PMC
- 10Barton JC3 papers · 2020
Southern Iron Disorders Center, Birmingham, AL, USA and Department of Medicine; University of Alabama at Birmingham, Birmingham, AL, USA. Electronic address: ironmd@isp.com.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 4 trials are registered for porphyria cutanea tarda, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
4 interventional trials matched porphyria cutanea tarda, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: porphyria cutanea tarda
4
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.
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.
"Sporadic porphyria cutanea tarda" OR "Porphyria cutanea tarda type I" OR "acquired porphyria cutanea tarda"
MeSH descriptor terms unioned into the query: Porphyria Cutanea Tarda, Type I
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Sporadic porphyria cutanea tarda" OR "Porphyria cutanea tarda type I" OR "acquired porphyria cutanea tarda" OR "Porphyria Cutanea Tarda, Type I"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"porphyria cutanea tarda"
Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase
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 2026-07-27T16:23:34.240Z