On Nov. 14, 2024, the U.S. Food and Drug Administration approved PTC Therapeutics’ Kebilidi (eladocagene exuparvovec-tneq), an adeno-associated virus vector-based gene therapy indicated for the treatment of adult and pediatric patients with aromatic L-amino acid decarboxylase (AADC) deficiency. Kebilidi is the first FDA-approved gene therapy for treatment of AADC deficiency.

Aromatic L-amino acid decarboxylase deficiency is a rare genetic disorder that affects the production of some neurotransmitters, which are chemical messengers that allow cells in the body’s nervous system to communicate with each other. Affected individuals may experience symptoms such as delays in gross motor function (head control, sitting, standing, and walking), hypotonia (weak muscle tone), and developmental and cognitive delays.

Kebilidi is administered via four infusions in one surgical session into a large structure in the brain involved in motor control. Kebilidi should be administered in a medical center that specializes in pediatric stereotactic neurosurgery — a technique that uses imaging and special equipment to deliver therapies to specific areas in the brain. After infusion of Kebilidi, treatment results in the expression of AADC and subsequent increase in the production of dopamine, a critical neurotransmitter in the brain associated with movement, attention, learning and memory.