Hepatic porphyria
MONDO:0002520A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues.
Also known as: ALAD deficiency, Delta-aminolevulinate dehydratase deficiency, hepatic porphyria, liver porphyria, porphobilinogen synthase deficiency, porphyria of liver, acute hepatic porphyria, acute porphyria
23 clinical trials for this condition and its sub-types, 4 tagged with Hepatic porphyria itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Hepatic porphyria
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Erythropoietic protoporphyria 15 trials
2 sub-types
- X-linked erythropoietic protoporphyria 10 trials
- Autosomal erythropoietic protoporphyria 0 trials · 3 incl. sub-types Sub-types →
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Hereditary coproporphyria 5 trials
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HMBS-related hepatic porphyria 0 trials · 5 incl. sub-types
4 sub-types
- Acute intermittent porphyria 5 trials
- Encephalopathy, porphyria-related 0 trials
- Leukoencephalopathy, porphyria-related 0 trials
- Porphyria, acute intermittent, nonerythroid variant 0 trials
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PPOX-related hepatic porphyria 0 trials · 2 incl. sub-types
1 sub-type
- Variegate porphyria 2 trials Sub-types →
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Porphyria cutanea tarda 0 trials · 1 incl. sub-types
3 sub-types
- Familial porphyria cutanea tarda 1 trial
- Hepatoerythropoietic porphyria 0 trials
- Sporadic porphyria cutanea tarda 0 trials
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Hepatic cutaneous porphyria 0 trials
Most studied deeper sub-types
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New patient registry aims to unlock secrets of rare liver disease
Knowledge-focused Recruiting nowThis study is a global registry that will follow about 150 people with acute hepatic porphyria (AHP) over time. Researchers will collect information on how the disease progresses, how it is managed in real-world settings, and the safety and effectiveness of approved treatments li…
Sponsor: Alnylam Pharmaceuticals • Aim: Knowledge-focused
Last updated Sep 10, 2026 00:00 UTC
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Scientists launch Largest-Ever porphyria watch: 1,500 patients tracked for clues
Knowledge-focused Recruiting nowThis study follows 1,500 people with porphyria over many years to learn how the disease progresses, what symptoms appear, and how it affects pregnancy and lifespan. Researchers will collect medical records and lab results to create a clearer picture of the condition. No new treat…
Sponsor: The American Porphyrias Expert Collaborative • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:33 UTC