Inborn disorder of biogenic amine metabolism and transport

This early-stage trial tests a gene therapy called AAV2-hAADC in 42 children with AADC deficiency, a rare genetic disorder that causes severe movement problems and developmental delays. The therapy delivers a working gene directly into brain areas that control movement, aiming to…

This study tests an oral form of pyridoxal 5'-phosphate (P5P), a vitamin B6 derivative, for people with a rare genetic condition called PNPO deficiency. The condition causes hard-to-control seizures. The study will enroll 15 patients aged 2 years and older who already take P5P to…

This study looks at whether repeated eye injections of bevacizumab, a drug used for diabetic eye disease and other conditions, might affect heart health. Researchers will measure certain enzymes in the blood that are linked to heart disease risk. The study includes 180 adults age…