Hyperphenylalaninemia due to tetrahydrobiopterin deficiency

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 new device called PheCheck that measures phenylalanine levels from a fingerstick blood sample, intended for home use by people with PKU. Researchers compared its accuracy to the standard lab test in 30 participants aged 10 and older. The goal was to see if the…

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 followed 220 adults with phenylketonuria (PKU) in France to learn how the disease affects them later in life. Researchers looked for signs of cognitive decline, neurological problems, and how the disease impacts quality of life and social integration. No new treatment …

This completed study followed 12 women with PKU who chose to use PKU Sphere, a special low-protein medical food, before and during pregnancy. Researchers tracked their blood amino acid levels, diet adherence, and pregnancy outcomes. The goal was to see if the product helps mainta…

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…