Phenylketonuria

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 study tests a rapid drug desensitization (RDD) protocol for adults with phenylketonuria (PKU) who have had allergic reactions to Palynziq. Over one day, patients receive gradually increasing doses to retrain their immune system. The goal is to see if they can safely restart …

This study tests a one-time gene therapy called SAR444836 for adults with phenylketonuria (PKU), a genetic disorder that makes it hard to break down an amino acid called phenylalanine. The therapy uses a harmless virus to deliver a working copy of the missing gene. Researchers wa…

This study tests an injectable drug called pegvaliase in 55 teenagers (ages 12-17) with phenylketonuria (PKU) who have high blood Phe levels despite diet management. Half get the drug, half stick to diet only. The goal is to see if pegvaliase safely lowers Phe levels and reduces …

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

This study tests new vitamin and mineral supplements called EasiVits for children aged 1-16 with inborn errors of metabolism (IEM). These supplements have less carbohydrate and no flavor, so they can be used with different diets and kids can add their own taste. The goal is to se…

This study will collect and analyze genetic data from 1000 people with suspected inherited metabolic diseases, including conditions like epilepsy and mitochondrial disorders. Researchers at Karolinska University Hospital aim to improve diagnosis by using advanced genetic testing …

This study was designed to track how COVID-19 infection might worsen the condition of people with inherited metabolic diseases (IMD). Researchers planned to collect information from French patients with IMD who had or had COVID-19 to see how often their metabolic disease got wors…

This study tests whether a 48-hour BH4 loading test can predict which people with phenylketonuria (PKU) will respond to treatment. Twenty participants receive BH4 and have their blood phenylalanine levels measured over two days. The goal is to link test results with each person's…