Gene therapy -Target gene Aromatic L-amino acid decarboxylase

Routes of administration-Brain infusion

Eladocagene exuparvovec, sold under the brand name Kebildi.

It is a gene therapy product for the treatment of aromatic L‑amino acid decarboxylase (AADC) deficiency.

It infuses the gene encoding for the human aromatic L-amino acid llldecarboxylase enzyme into the putamen region of the brain.

The subsequent expression of aromatic L-amino acid decarboxylase results in dopamine production and, as a result, development of motor function in people with aromatic L-amino acid decarboxylase deficiency.

Eladocagene exuparvovec is an adeno-associated virus vector-based gene therapy.

Side effects include initial insomnia, irritability and dyskinesia.

The most common side effects of eladocagene exuparvovec include dyskinesia, fever, low blood pressure, anemia, increased saliva production, insomnia, low levels of potassium, phosphate, and/or magnesium, and procedural complications such as respiratory and cardiac arrest.

Eladocagene exuparvovec is indicated for the treatment of aromatic L-amino acid decarboxylase (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 functions-head control, sitting, standing, and walking, hypotonia and developmental and cognitive delays.

Eladocagene exuparvovec is contraindicated in people who have not achieved skull maturity.

The efficacy of eladocagene exuparvovec was demonstrated based on gross motor function improvement in 8 of 12 treated participants, which has not been reported in untreated participants with the severe presentation of aromatic L-amino acid decarboxylase deficiency.