Midbrain gene therapy ‘beneficial’ in rare genetic disease
The approach has been trialled in seven children with aromatic L-amino acid decarboxylase deficiency
Gene therapy appears to be safe and leads to improvement in children with aromatic L-amino acid decarboxylase (AADC) deficiency, a small study suggests.
The rare genetic disease presents in early infancy and causes severe developmental disability and lifelong motor, behavioural, and autonomic symptoms including oculogyric crises, sleep disorders, and mood disturbances.
As reported in Nature Communications, the team delivered a viral vector expressing AADC to the midbrain of seven children aged between four and nine with AADC deficiency.
Specifically, participants underwent convection-enhanced delivery of the viral vector expressing AADC to the bilateral substantia nigra and ventral tegmental area.
