Erythropoietic protoporphyria
MONDO:0001676A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly.
Also known as: EPP (erythropoietic protoporphyria porphyria)
14 clinical trials for this condition and its sub-types.
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Broader categories
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New drug bitopertin offers hope for sunlight pain relief in rare blood disorders
Disease control ENROLLING_BY_INVITATIONThis 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: PHASE2, PHASE3 • Sponsor: Disc Medicine, Inc • Aim: Disease control
Last updated Aug 14, 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: PHASE3 • Sponsor: Disc Medicine, Inc • Aim: Disease control
Last updated Aug 14, 2026 00:00 UTC
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Liver drug study for rare disease pulled before it started
Disease control TerminatedThis 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: PHASE1 • Sponsor: Wake Forest University Health Sciences • Aim: Disease control
Last updated Jun 27, 2026 09:00 UTC