Porphyria

Summary

Porphyria (MONDO:0037939) is a disease and 10 clinical trials. Top therapeutic interventions include heme arginate and stannsoporfin. A subtype of porphyrin metabolism disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Clinical trials: 10

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	porphyria
Mondo ID	MONDO:0037939
MeSH	D011164
NCIT	C97096
SNOMED CT	418470004
UMLS	C5848305
MedGen	1844832
Is cancer (heuristic)	no

Also known as: porphyria

Disease family

This is a subtype of porphyrin metabolism disease. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by developmental or physiological process › metabolic disease › porphyrin metabolism disease › porphyria

Related subtypes (1): inborn disorder of porphyrin metabolism

Subtypes (3): hepatic porphyria, inherited porphyria, acquired porphyria

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

Drugs indicated for this disease

1 approved. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Chlorpromazine	Approved (phase 4)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Dextrose, Heme Arginate, Hemin, Stannsoporfin.

Clinical trials & evidence

Clinical trials

Clinical trials: 10.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	6
PHASE1	2
PHASE2	1
PHASE1/PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00004396	PHASE2	COMPLETED	Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute Porphyrias
NCT00004789	PHASE1/PHASE2	COMPLETED	Phase I/II Study of Heme Arginate and Tin Mesoporphyrin for Acute Porphyria
NCT00004397	PHASE1	COMPLETED	Phase I Study of Tin Mesoporphyrin in Patients on Long Term Heme Therapy for Prevention of Acute Attacks of Porphyria
NCT00004398	PHASE1	COMPLETED	Phase I Study of Heme Arginate With or Without Tin Mesoporphyrin in Patients With Acute Attacks of Porphyria
NCT00004330	Not specified	COMPLETED	Studies in Porphyria IV: Gonadotropin-Releasing Hormone (GnRH) Analogues for Prevention of Cyclic Attacks
NCT00004331	Not specified	UNKNOWN	Studies in Porphyria I: Characterization of Enzyme Defects
NCT00004788	Not specified	COMPLETED	Study of Nutritional Factors in Porphyria
NCT03547297	Not specified	TERMINATED	INSIGHT-AHP: A Study to Characterize the Prevalence of Acute Hepatic Porphyria (AHP) in Patients With Clinical Presentation and History Consistent With AHP
NCT03906214	Not specified	COMPLETED	Evidence-based Assessment of Medication Sensitivity in Acute Hepatic Porphyria
NCT05496933	Not specified	UNKNOWN	Colombia National Porphyria Registry

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
HEME ARGINATE	3	4
STANNSOPORFIN	3	4