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 oral drug shows promise for rare sun allergy conditions
Disease control OngoingThis study is for people with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP), rare conditions that cause severe pain and skin reactions to sunlight. The purpose is to check the long-term safety of an oral medication called dersimelagon. About 301 participant…
Phase 3 • Sponsor: Tanabe Pharma America, Inc. • Aim: Disease control
Last updated Sep 09, 2026 15:00 UTC
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New pill could let Sun-Sensitive patients enjoy the outdoors
Disease control OngoingThis Phase 3 trial tests whether bitopertin, a daily pill, can help people with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP) spend more time in sunlight without pain. About 183 participants aged 12 and older will take bitopertin or a placebo for 6 months. …
Phase 3 • Sponsor: Disc Medicine, Inc • Aim: Disease control
Last updated Sep 04, 2026 00:00 UTC
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New drug bitopertin offers hope for sunlight pain relief in rare blood disorders
Disease control By invitation onlyThis long-term study tests the safety and effectiveness of bitopertin (DISC-1459) in people with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP), rare conditions that cause severe pain from sunlight exposure. About 230 participants who previously took bitoper…
Phase 2/3 • Sponsor: Disc Medicine, Inc • Aim: Disease control
Last updated Sep 04, 2026 00:00 UTC
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Liver drug study for rare disease pulled before it started
Disease control CancelledThis study aimed to see if the drug bitopertin is safe for people with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP) who also have early signs of liver disease. Researchers planned to check for side effects and measure changes in protoporphyrin levels in bl…
Phase 1 • Sponsor: Wake Forest University Health Sciences • Aim: Disease control
Last updated Jun 27, 2026 09:00 UTC
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Porphyria biomarker hunt could transform patient monitoring
Knowledge-focused OngoingThis study aims to find new biological markers (biomarkers) that can show how active acute porphyria is in the body and how well treatments are working. Researchers will study 50 people with confirmed acute porphyria to measure gene activity related to heme production and stress …
Sponsor: The University of Texas Medical Branch, Galveston • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:32 UTC
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Could a hidden liver condition cause POTS? new study aims to find out
Knowledge-focused OngoingThis study looks at whether people with Postural Orthostatic Tachycardia Syndrome (POTS) might also have a rare condition called acute hepatic porphyria (AHP), which can cause similar symptoms like rapid heart rate and abdominal pain. Researchers will test 70 adults with POTS usi…
Sponsor: Vanderbilt University Medical Center • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:13 UTC