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ORPHA:79473

Variegate porphyria

low confidenceDisorder

Also known as: Porphyria variegata · Protoporphyrinogen oxidase deficiency

Publications

2,001

Trials

3

Interventional, condition-specific

Researchers

882

Distinct authors in sample

Gene link

PPOX

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare acute hepatic porphyria characterized by neurovisceral attacks and/or skin lesions.

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 (3)

Protocoproporphyria · protoporphyrinogen oxidase deficiency · variegate 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 — PPOX

  2. LiteraturePresent

    2,001 matched papers (977 in last 10 years) Source

  3. Phenotype characterisedPresent

    80 HPO annotations (e.g. Milia; Atopic dermatitis; Cutaneous photosensitivity) Source

  4. Animal modelPresent

    3 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationPresent

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

  6. Interventional trialPresent

    3 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?

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

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

80

Associated phenotypes · MONDO:0008297

  • Milia
  • Atopic dermatitis
  • Cutaneous photosensitivity
  • Delayed skeletal maturation
  • Focal impaired awareness seizure

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 HistrelinVariegate Porphyria Acute intermittent porphyria Coproporphyria · 1991-05-03 · Not FDA Approved for Orphan Indication
  • EMA afamelanotideTreatment of variegate porphyria · 25/07/2024 · PositiveEMA designation
  • FDA Hemin (Panhematin)Hereditary Coproporphyria Porphyria Variegata Acute intermittent porphyria AIP Symptoms · 1984-03-16

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0008297

CTD chemicals (MyDisease.info)

3 associated chemicals · 5 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Dapsone · marker/mechanism
  • oxadiazon · marker/mechanism
  • oxyfluorofen · marker/mechanism

Pathways: Porphyrin and chlorophyll metabolism; Metabolic pathways; Metabolism; Metabolism of porphyrins; Heme biosynthesis

MyDisease.info · MONDO:0008297

Literature

Is anyone studying this?

2,001

2,001 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.

2,001 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).

977 in the last 10 years · low confidence

Phrase hits: 1,214 · MeSH hits: 3

Open Europe PMC search

Who's working on it?

882

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
    Bonkovsky HL10 papers · 2026

    Section on Gastroenterology & Hepatology, Department of Medicine, Wake Forest University School of Medicine, Winston-Salem, NC 27157, USA.

    Papers in Europe PMC
  2. 02
    Stölzel U8 papers · 2026

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

    Papers in Europe PMC
  3. 03
    Wang B8 papers · 2025

    Department of Medicine and Division of Gastroenterology, University of California San Francisco, San Francisco, California, USA.

    Papers in Europe PMC
  4. 04
    Anderson KE7 papers · 2026

    Department of Preventive Medicine and Population Health, University of Texas Medical Branch, Galveston, TX.

    Papers in Europe PMC
  5. 05
    Ventura P7 papers · 2025

    Regional Reference Centre for Diagnosing and Management of Porphyrias, Internal Medicine Unit, Department of Medical and Surgical Science for Children and Adults, Azienda Ospedaliero-Universitaria Policlinico of Modena, University of Modena and Reggio Emilia, Largo del Pozzo 71, 41124 Modena, Italy.

    Papers in Europe PMC
  6. 06
    Edel Y6 papers · 2023

    Porphyria Center, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel.

    Papers in Europe PMC
  7. 07
    Ricci A6 papers · 2025

    Regional Reference Centre for Diagnosing and Management of Porphyrias, Internal Medicine Unit, Department of Medical and Surgical Science for Children and Adults, Azienda Ospedaliero-Universitaria Policlinico of Modena, University of Modena and Reggio Emilia, Largo del Pozzo 71, 41124 Modena, Italy.

    Papers in Europe PMC
  8. 08
    Stauch T6 papers · 2026

    Porphyrie-Speziallabor EPNET, MVZ Labor PD Dr. med. Volkmann und Kollegen GbR, Gerwigstr. 67, 76131, Karlsruhe, Deutschland.

    Papers in Europe PMC
  9. 09
    Balwani M5 papers · 2025

    Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.

    Papers in Europe PMC
  10. 10
    Frank J5 papers · 2024

    Department of Dermatology, Venerology and Allergology, University Medical Center, Göttingen, Germany.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

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

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

3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).

low confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

3 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.

Observational and natural-history studies

3 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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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 (1)

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 Variegate 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.

("Variegate porphyria" OR "Porphyria variegata" OR "Protoporphyrinogen oxidase deficiency" OR "Protocoproporphyria") OR (MESH:"Porphyria, Variegate") OR ("PPOX" OR "PPOX syndrome" OR "PPOX-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Porphyria, Variegate

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

"Variegate porphyria" OR "Porphyria variegata" OR "Protoporphyrinogen oxidase deficiency" OR "Protocoproporphyria" OR "Porphyria, Variegate"

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: 3 interventional · 3 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
  • Publication count (2001) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T02:27:40.432Z