Inherited porphyria

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 two different chemotherapy drugs (Treosulfan and Busulfan) given before a stem cell transplant in 106 children with serious non-cancer diseases like immune disorders, metabolic diseases, blood disorders, and bone marrow failure. The goal was to see which drug le…

This study tested a new method called global metabolomic profiling to diagnose inborn errors of metabolism, a group of rare genetic disorders. Researchers compared this approach to traditional testing in 240 participants. The goal was to see if the new method could more accuratel…

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 created a registry of medical records from women with inborn errors of metabolism—rare conditions that affect how the body turns food into energy. Researchers collected data from past or current pregnancies and followed babies for one year after birth. The goal was to …

This completed study looked at how the social networks of caregivers affect their stress and health when caring for someone with an inherited disease. Researchers surveyed over 680 participants, including family members and formal caregivers, to understand caregiving burden and s…

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…

This study looked at how many girls and young women aged 11 to 20 with chronic diseases (like diabetes or immune conditions) got the HPV vaccine, compared to those without chronic illness. Researchers reviewed records of 223 participants from a hospital in France. The goal was to…