Ptc Therapeutics

This study tests the long-term safety of an experimental drug called PTC923 (sepiapterin) in 200 people with phenylketonuria (PKU), a genetic condition that makes it hard to process the amino acid phenylalanine. Participants take the drug and researchers track side effects and ch…

This study looks at the long-term safety of a drug called vatiquinone in people with Friedreich ataxia who have already taken it in earlier studies. About 130 participants will be followed for up to 3 years to monitor side effects and track changes in their movement and coordinat…

This study tests a gene therapy called eladocagene exuparvovec in 13 children with AADC deficiency, a rare genetic disorder that affects brain function. The therapy is given directly into the brain using a special needle. The main goals are to check safety and see if it raises le…