Ptc Therapeutics

This study looks at the long-term safety of the drug vatiquinone in 130 people with Friedreich ataxia who have already taken it in earlier studies. Researchers will track side effects and measure how the disease progresses over three years using a standard rating scale. The goal …

This study tests the long-term safety of an experimental drug called PTC923 (sepiapterin) in about 200 people with phenylketonuria (PKU), a genetic condition that makes it hard to process the amino acid phenylalanine. The main goals are to check for side effects and see if the dr…

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