Disorder of phenylalanine metabolism

This phase 3 study tests a drug called PTC923 (sepiapterin) in 200 people with phenylketonuria (PKU), a genetic condition that requires a strict low-protein diet. The main goal is to see if the drug is safe over the long term and whether it allows people to eat more protein witho…

This early-stage study tested an experimental oral drug called JNT-517 in healthy volunteers and people with phenylketonuria (PKU), a genetic condition that causes harmful buildup of the amino acid phenylalanine. The main goals were to check safety and how the body processes the …

This study tested a special drink called PKU UP in 16 children with phenylketonuria (PKU) aged 1 to 10 years. The drink is designed to replace some of the protein they need while keeping their phenylalanine levels safe. Researchers checked how well the children tolerated the drin…

This study looked at whether a special medical food called Express Plus is acceptable for children and adults with certain inherited metabolic disorders like PKU and maple syrup urine disease. Over 28 days, 28 participants tried the product and reported how well they liked it, ho…

This study looked at whether people with phenylketonuria (PKU) can tolerate and stick with a new protein substitute called PKU Sphere. Thirteen participants gradually increased their intake over up to 16 weeks, then continued for 4 more weeks while researchers tracked their blood…

This study tested a new drug called JNT-517 in 14 teenagers with phenylketonuria (PKU). Participants took either JNT-517 or a placebo twice daily for 28 days. The main goal was to check safety and how the drug moves through the body, while also measuring changes in blood phenylal…

This study tested an engineered probiotic called CBT102-A in 15 children with phenylketonuria (PKU), a condition where the body cannot break down an amino acid called phenylalanine. The children took the probiotic or a placebo for 20 days. The goal was to see if the probiotic cou…

This completed trial tested whether PKU GOLIKE, a special food for managing PKU, works better than standard amino acid protein substitutes at controlling blood phenylalanine levels. Sixteen children with PKU, aged 5 to 16, took part in a crossover study where they tried both prod…

This study tested a new microtablet supplement called PKU EASY Microtabs Plus in 10 people with PKU aged 3 and older. The supplement is a slow-release protein substitute designed to help manage PKU. Over one week, researchers checked how well participants tolerated it (stomach is…

This study tested a special medical food called PKU explore in 7 infants with phenylketonuria (PKU) aged 6 months to 3 years. The goal was to see if babies would accept the product, tolerate it well, and maintain healthy phenylalanine levels and growth. The food replaced or suppl…

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 followed 12 adults with PKU to see how their nutrition changed before and during treatment with pegvaliase (Palynziq). Researchers measured protein intake, body composition, bone density, and vitamin levels over 15 months. The goal was to understand if the drug affects…

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 gave 22 healthy men a single dose of semaglutide (Rybelsus) or a placebo pill to see how it affects cortisol and other stress hormones. The goal was not to treat any disease, but to learn more about how GLP-1 drugs interact with the body's stress system. Part…

This study looked at how the drug Palynziq, which lowers phenylalanine levels in the blood, affects the brain and thinking abilities in adults with phenylketonuria (PKU). Six participants who were already taking Palynziq underwent brain scans and cognitive tests to measure change…

This study looked at 40 adults—some with phenylketonuria (PKU) and some healthy—to see if PKU causes low-level inflammation in the body. Researchers measured inflammatory markers in blood samples. The goal was to better understand how PKU affects overall health, not to test a new…

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…