Inborn disorder of bilirubin metabolism

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 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 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 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 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 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 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 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 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…