Hepatic porphyria

Summary

Hepatic porphyria (MONDO:0002520) is a disease (an umbrella term covering 7 Mondo subtypes) and 10 clinical trials. Top therapeutic interventions include dextrose and givosiran. A subtype of liver disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 7 Mondo subtypes
• Clinical trials: 10

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	hepatic porphyria
Mondo ID	MONDO:0002520
MeSH	D017094
Orphanet	659694
DOID	DOID:3133
SNOMED CT	55056006
UMLS	C0162533
MedGen	58119
GARD	0019255
Anatomy (UBERON)	UBERON:0002107
Is cancer (heuristic)	no

Also known as: acute hepatic porphyria · acute porphyria · ALAD deficiency · Delta-aminolevulinate dehydratase deficiency · hepatic porphyria · hepatic Porphyrias · liver porphyria · porphobilinogen synthase deficiency · porphyria of liver · porphyria, hepatic

Data availability: 1 cell line.

Disease family

This is a subtype of liver disorder. 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 body system or component › digestive system disorder › hepatobiliary disorder › liver disorder › hepatic porphyria

Related subtypes (31): polycystic echinococcosis, autosomal dominant polycystic liver disease, hepatorenal syndrome, hepatitis, hepatic vascular disorder, hepatopulmonary syndrome, fatty liver disease, cirrhosis of liver, drug-induced liver injury, perinatal jaundice due to hepatocellular damage, Aagenaes syndrome, transient familial neonatal hyperbilirubinemia, hyperbiliverdinemia, transient infantile hypertriglyceridemia and hepatosteatosis, idiopathic copper-associated cirrhosis, familial intrahepatic cholestasis, bile duct cyst, nodular regenerative hyperplasia of the liver, hepatoportal sclerosis, primitive portal vein thrombosis, glycogen storage disease due to liver phosphorylase kinase deficiency, liver and intrahepatic bile duct neoplasm, alcoholic liver disease, early-onset familial noncirrhotic portal hypertension, liver failure, fibrotic liver disease, intestinal failure–associated liver disease, liver abscess (disease), membranous obstruction of inferior vena cava, liver disease, severe congenital, cystic fibrosis-related liver disease

Subtypes (7): erythropoietic protoporphyria, hereditary coproporphyria, porphyria due to ALA dehydratase deficiency, porphyria cutanea tarda, HMBS-related hepatic porphyria, PPOX-related hepatic porphyria, hepatic cutaneous 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, 1 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Givosiran Sodium	Approved (phase 4)
Givosiran	Phase 3 (in late-stage trials)

Clinical trials & evidence

Clinical trials

Clinical trials: 10.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	7
PHASE3	1
PHASE2	1
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03338816	PHASE3	COMPLETED	ENVISION: A Study to Evaluate the Efficacy and Safety of Givosiran (ALN-AS1) in Patients With Acute Hepatic Porphyrias (AHP)
NCT02180412	PHASE2	COMPLETED	Controlled Trial of Panhematin in Treatment of Acute Attacks of Porphyria
NCT03505853	PHASE1	COMPLETED	A Study to Investigate the Interaction Between Givosiran and a 5-probe Drug Cocktail in Patients With Acute Intermittent Porphyria (AIP)
NCT01561157	Not specified	RECRUITING	Longitudinal Study of the Porphyrias
NCT04883905	Not specified	RECRUITING	ELEVATE, a Registry of Patients With Acute Hepatic Porphyria (AHP)
NCT05344599	Not specified	ACTIVE_NOT_RECRUITING	Evaluating the Prevalence of Acute Hepatic Porphyria in Postural Tachycardia Syndrome
NCT02240784	Not specified	COMPLETED	EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP)
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
NCT04056481	Not specified	APPROVED_FOR_MARKETING	Expanded Access Protocol of Givosiran for Patients With Acute Hepatic Porphyria
NCT04923516	Not specified	COMPLETED	Prevalence of Acute Hepatic Porphyria

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
DEXTROSE	4	1
GIVOSIRAN	3	3
CHEMBL1235151	0	1