X-linked erythropoietic protoporphyria
MONDO:0010420An erythropoietic protoporphyria in which the cause of the disease is a hemizygous, heterozygous, or homozygous (rare) gain-of-function (GOF) variant (X-linked inheritance pattern) in the terminal regulatory exon of ALAS2. GOF variants increase ALAS2 activity resulting in pathway upregulation and high levels of protoporphyrin IX (PPIX). Males with hemizygous variants frequently present in early childhood with severe cutaneous photosensitivity and laboratory markers of liver disease. Heterozygous females can present with symptoms ranging from as severe as affected males to asymptomatic due to random X-chromosome inactivation. This disease is clinically indistinguishable from FECH-related erythropoietic protoporphyria.
Also known as: ALAS2-related erythropoietic protoporphyria, X-linked dominant erythropoietic protoporphyria, X-linked dominant protoporphyria, XLDPP, XLPP, erythropoietic protoporphyria, X-linked, Erythrohepatic protoporphyria, X-linked, XLEPP
10 clinical trials for this condition and its sub-types.
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New oral drug shows promise for rare sun allergy conditions
Disease control Recruiting nowThis 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: PHASE3 • Sponsor: Tanabe Pharma America, Inc. • Aim: Disease control
Last updated Aug 13, 2026 00:00 UTC
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New hope for rare sun allergy: bitopertin offered to patients with no options
Disease control AVAILABLEThis expanded access program provides bitopertin (DISC-1459) to patients aged 12 and older with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP) who have no satisfactory treatment options in the US. The goal is to offer access and gather safety information. Pa…
Sponsor: Disc Medicine, Inc • Aim: Disease control
Last updated Aug 05, 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
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New study aims to unlock mysteries of rare sun allergy disorders
Knowledge-focused Recruiting nowThis observational study is gathering information on how erythropoietic protoporphyria (EPP) and X-linked porphyria (XLP) affect people aged 12 and older. Over 6 months, researchers will track symptoms, light exposure, and blood levels of protoporphyrin IX (PPIX) in 50 participan…
Sponsor: Portal Therapeutics, Inc. • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:29 UTC