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Cutaneous porphyria
MONDO:0009902An erythropoietic porphyria (massive accumulation of photoreactive porphyrins in the bone marrow erythroid cells and circulating erythrocytes, resulting in cutaneous photosensitivity) caused by biallelic variants in UROS (in an autosomal recessive inheritance pattern). Cases where biallelic variants reduce WT enzyme activity to <5% are characterized by photosensitivity, hemolytic anemia (often in utero), erythrodontia, splenomegaly, cutaneous blistering, scarring and disfigurement. Other cases where biallelic variants do not reduce enzyme activity as severely (5-12% of WT activity) have a later onset of photosensitivity and milder symptoms.
Also known as: CEP, Congenital Erythropoietic Porphyria, Günther disease, UROS-related erythropoietic porphyria, cutaneous porphyria, erythropoietic porphyria, Cep, Gunther disease
9 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsBroader categories
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Experimental pill aims to ease sun sensitivity in rare blood disorder
Disease control Recruiting nowThis early-phase trial tests an oral drug called ATL-001 (ciclopirox) in 6 adults with congenital erythropoietic porphyria (CEP), a rare condition that causes severe skin damage from sunlight. The study measures whether the drug reduces skin lesions, fatigue, and other symptoms o…
Phase: PHASE1, PHASE2 • Sponsor: Atlas Molecular Pharma • Aim: Disease control
Last updated Jun 27, 2026 12:00 UTC
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New anemia drug enters early human testing
Symptom relief Recruiting nowThis early-stage study tests a new drug called APG-5918 in healthy volunteers and people with anemia (low red blood cells). The main goal is to check safety and how the body handles the drug, while also seeing if it can raise hemoglobin levels. About 105 participants will take pa…
Phase: PHASE1 • Sponsor: Ascentage Pharma Group Inc. • Aim: Symptom relief
Last updated Jun 27, 2026 12:08 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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Hospital tests if its own anemia rules actually get followed
Knowledge-focused Recruiting nowThis study looks at whether doctors at Siriraj Hospital follow a new guideline for treating anemia in patients before major surgery. Anemia is common in surgical patients and can lead to more blood transfusions and worse outcomes. The researchers will track 93 anemic patients to …
Sponsor: Siriraj Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:11 UTC
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Anemia type may predict surgery danger
Knowledge-focused Recruiting nowThis study is observing 1000 adults having moderate- to high-risk surgery to see if the type and severity of anemia they have before surgery affects their risk of complications like heart injury, kidney injury, or stroke. Researchers will compare patients with iron-deficiency ane…
Sponsor: Peking Union Medical College Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:00 UTC