Inherited porphyria
MONDO:0019142Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both.
Also known as: disorder of porphyrin and heme metabolism, disorder of porphyrin metabolism, porphyria, hereditary porphyria, Hematoporphyria, Porphyrinopathy
24 clinical trials for this condition and its sub-types, 0 tagged with Inherited porphyria itself.
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Sub-types of Inherited 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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CPOX-related hereditary coproporphyria 0 trials · 5 incl. sub-types
2 sub-types
- Hereditary coproporphyria 5 trials
- Harderoporphyria 0 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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Cutaneous porphyria 2 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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UROD-related inherited porphyria 0 trials · 1 incl. sub-types
2 sub-types
- Familial porphyria cutanea tarda 1 trial
- Hepatoerythropoietic porphyria 0 trials
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Chester porphyria 0 trials
Most studied deeper sub-types
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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 12, 2026 00:00 UTC
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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 11, 2026 00:00 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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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