A study led by researchers at The Ohio State University Wexner Medical Center and The Ohio State University College of Medicine shows that a new method of gene therapy is providing relief for children born with AADC deficiency. Additionally, the study offers treatment insight into population health management for those living with incurable genetic and neurodegenerative diseases.
According to the study, aromatic L-amino acid decarboxylase (AADC) deficiency occurs when individuals have an insufficient synthesis of dopamine and serotonin. Dopamine fuels the pathways in the brain responsible for motor function and emotions. Those that have deficient amounts will face severe physical and developmental disabilities.
There are about 135 known children worldwide missing the enzyme that produces dopamine in the central nervous system. Without the enzyme, children lack muscle control, and struggle to speak, feed themselves or hold their heads up. They can also suffer from seizure-like episodes called oculogyric crises that can potentially last for hours.
