PHENYLKETONURIA

This early-stage trial is testing a new drug called AG-181 in 20 adults with phenylketonuria (PKU), a genetic condition that makes it hard to break down an amino acid called phenylalanine. The main goal is to check if the drug is safe and tolerable. Researchers will also measure …

This study tests whether sepiapterin, a powder taken daily, can preserve intelligence and quality of life in children with phenylketonuria (PKU) when started early in childhood. The trial will follow 56 children for years, measuring IQ and other outcomes. It is an open-label phas…

This study tests whether adding methotrexate (a drug that calms the immune system) can help adults with PKU tolerate and respond better to Palynziq, a protein-based treatment. About 12 adults who either haven't taken Palynziq before or have high blood Phe levels despite treatment…

This study tests an experimental oral drug, JNT-517, for adults with phenylketonuria (PKU), a genetic condition that causes harmful buildup of phenylalanine (Phe). About 120 adults will receive either JNT-517 or a placebo for 6 weeks, then all will receive JNT-517 for nearly a ye…

This study is testing four new powdered protein substitutes made from a milk protein called GMP for people with PKU and tyrosinemia. These conditions require a special low-protein diet, and current formulas can be hard to tolerate. Over 29 days, researchers will check how well 40…

This study looks at how parents and doctors handle the moment a newborn is diagnosed with phenylketonuria (PKU) through routine screening. Researchers will interview 80 parents and medical staff to understand the emotional impact and find ways to improve how the diagnosis is shar…

This study looks at whether a special camp that teaches teens and young women with PKU or MSUD about their condition and nutrition can improve their pregnancy outcomes and quality of life. Researchers will compare the results of women who attended the camp to those who did not. T…

This study looks at how different meals before exercise affect amino acid levels in adults with phenylketonuria (PKU). Ten participants will try water, carbohydrates, or protein before doing aerobic and resistance exercises. Researchers will measure changes in blood amino acids t…