UROD-related inherited porphyria
MONDO:0100498Porphyria caused by monoallelic and biallelic variants in UROD and presenting as a spectrum of disease (a semidominant inheritance pattern). Additionally, environmental factors almost always play a role in the disease. Monoallelic variants when exacerbated by environmental factors can result in episodic adult onset of photosensitivity. Biallelic variants that reduce WT enzyme activity <20% cause childhood onset of photosensitivity and sometimes liver damage.
Also known as: UROD-related porphyria
2 clinical trials for this condition and its sub-types, 0 tagged with UROD-related inherited porphyria itself.
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Sub-types of UROD-related inherited porphyria
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Familial porphyria cutanea tarda 1 trial
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Hepatoerythropoietic porphyria 0 trials
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A drop of blood, a faster answer: new test aims to outpace sepsis in preterm infants
Diagnosis Recruiting nowThis pilot study is testing whether a rapid, point-of-care blood test can help identify early signs of infection and sepsis in preterm infants. Researchers will measure inflammatory markers like IL-6, PCT, CRP, and MxA in blood samples from about 40 to 80 premature babies, compar…
Sponsor: Medical University of Graz • Aim: Diagnosis
Last updated Oct 08, 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