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
21 clinical trials for this condition and its sub-types.
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Broader categories
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New hope for rare sun allergy: bitopertin offered to patients with no options
Disease control Expanded accessThis expanded access program provides bitopertin (DISC-1459) to patients aged 12 and older with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP) who have no satisfactory treatment options in the US. The goal is to offer access and gather safety information. Pa…
Sponsor: Disc Medicine, Inc • Aim: Disease control
Last updated Aug 05, 2026 00:00 UTC
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Could a Carb-Heavy diet tame a rare blood disorder?
Disease control Recruiting nowThis study is testing whether eating a diet rich in carbohydrates (60-65% of daily calories) can help people with acute intermittent porphyria (AIP), a rare genetic disorder that causes severe attacks of pain and other symptoms. Fifty adults with AIP will try two different diet p…
Sponsor: Nordlandssykehuset HF • Aim: Disease control
Last updated Jun 27, 2026 12:01 UTC
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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 09, 2026 15:00 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
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New study aims to unlock mysteries of rare sun allergy disorders
Knowledge-focused Recruiting nowThis observational study is gathering information on how erythropoietic protoporphyria (EPP) and X-linked porphyria (XLP) affect people aged 12 and older. Over 6 months, researchers will track symptoms, light exposure, and blood levels of protoporphyrin IX (PPIX) in 50 participan…
Sponsor: Portal Therapeutics, Inc. • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:29 UTC