Porphyrin metabolism disease

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 tests the long-term safety of maralixibat, an oral medication, in children with progressive familial intrahepatic cholestasis (PFIC), a rare liver disease that causes intense itching. Participants who completed a prior study will receive maralixibat twice daily. Resear…

This study tested the safety of a drug called maralixibat in 27 infants under 12 months old with Alagille syndrome or progressive familial intrahepatic cholestasis (PFIC), two rare liver diseases that cause bile buildup. The drug is given as an oral solution and aims to reduce bi…

This study looked at the long-term safety and effectiveness of a drug called A4250 (odevixibat) in 116 children with progressive familial intrahepatic cholestasis (PFIC), a rare liver disease. The children took the drug for up to 72 weeks. The study measured changes in bile acid …

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 looked at the long-term safety of a drug called maralixibat in 52 people with cholestatic liver disease, including Alagille Syndrome and other rare conditions. Participants had already taken maralixibat in an earlier study. Researchers tracked side effects and how well…

This study tested a drug called odevixibat (A4250) in 62 children with progressive familial intrahepatic cholestasis (PFIC) types 1 and 2, a rare liver disease that causes severe itching and bile buildup. The drug works by blocking the reabsorption of bile acids in the gut. The g…

This study tested a simple, low-cost plastic ruler called the Bili-ruler to screen newborns for jaundice. Over 4,000 infants were checked with the ruler, a standard device, and visual inspection. The goal was to see if the ruler can accurately identify dangerous jaundice, especia…

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 laser device (NIRA Laser M2.1) on 120 adults aged 35 and older to see if it could safely reduce full-face wrinkles. Some participants also used a topical cream after the laser. Wrinkle improvement was judged by experts looking at before-and-after photos, and p…

This study looked at whether placing a white cover over the incubator and giving gentle massage during phototherapy can lower bilirubin levels faster in newborns with jaundice caused by ABO incompatibility. Sixty full-term babies were included. The goal was to see if these simple…

This study tested whether adding reflective materials like aluminum foil or white cloth around babies during light therapy for jaundice helps lower bilirubin faster. 81 newborns with mild jaundice were randomly assigned to standard therapy, therapy with white cloth reflectors, or…

This study tested a drug called TAK-625 (maralixibat) in 5 Japanese children with progressive familial intrahepatic cholestasis (PFIC), a rare liver disease that causes severe itching. The main goal was to see if the drug reduces itching over 26 weeks. Researchers also checked sa…

This study looked at whether covering the incubator with a white cover and giving baby massage during phototherapy can lower bilirubin levels and shorten treatment time in newborns with jaundice. Researchers studied 60 full-term babies receiving phototherapy. The goal was to see …

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 tested whether placing a white reflective drape around phototherapy lights helps lower bilirubin levels faster in newborns with jaundice. 102 babies received either standard phototherapy or phototherapy with the drape. Researchers measured bilirubin at 4 and 24 hours a…

This study looked at whether waiting 60 seconds to clamp the umbilical cord (delayed cord clamping) raises bilirubin levels in newborns whose mothers had a previous child with jaundice needing treatment. Twenty mothers and their babies took part. The goal was to see if delayed cl…

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 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…

This completed observational study involved over 220,000 healthy newborns across China. Parents used a handheld device to measure jaundice levels by shining light through the skin from birth to 30 days old. The goal was to create a standard chart of normal bilirubin levels to hel…