Hereditary photodermatosis

This Phase 2 trial tested whether oral cimetidine (Tagamet), a common heartburn drug, can reduce light sensitivity in people with erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP). These genetic conditions cause severe pain from sunlight exposure. The study en…

This study looked at how the drug afamelanotide (Scenesse) behaves in the bodies of 28 people with erythropoietic protoporphyria (EPP), a rare condition that causes severe pain on sun exposure. Researchers measured the drug's concentration in the blood after a single implant. The…

This study tested a drug called bitopertin in 75 adults with erythropoietic protoporphyria (EPP), a rare condition that causes severe pain from sunlight exposure. The goal was to see if the drug is safe and can lower levels of a harmful substance in the blood. Participants receiv…

This study tested a drug called MT-7117 in 165 adults and adolescents (ages 12-75) with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP), conditions that cause severe pain from sunlight exposure. The goal was to see if the drug could delay the first symptoms o…

This study tested a drug called MT-7117 in 184 people aged 12 to 75 with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP), rare conditions that cause severe pain from sunlight. The goal was to see if the drug could delay the first signs of sun sensitivity (bur…

This phase 2 trial tested a drug called MT-7117 in 102 adults with erythropoietic protoporphyria (EPP), a rare condition that causes severe pain from sunlight. Participants took either a low dose, high dose, or placebo daily for 16 weeks. The goal was to see if the drug could inc…

This study looked at people with three rare genetic conditions—xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD)—that affect the body's ability to repair DNA. Researchers examined 709 participants to understand how these defects relate to cancer ri…

This completed study aimed to find out how many patients with a certain set of symptoms actually have acute hepatic porphyria (AHP), a rare metabolic disorder. Researchers enrolled 150 adults aged 18 to 60 who had severe abdominal pain along with neurological symptoms like limb w…

This study tested an artificial intelligence algorithm designed to help primary care doctors decide whether a patient with a skin condition really needs to see a dermatologist. Researchers enrolled 200 adults with skin problems and had their doctors take photos of the affected ar…