Eladocagene exuparvovec

Eladocagene exuparvovec is a gene therapy product developed by BioMarin Pharmaceutical for the treatment of Phenylketonuria. It is currently in the clinical trial phase and has not yet been approved for use by any regulatory authority.

Overview

Eladocagene exuparvovec is a recombinant adeno-associated virus vector-based gene therapy. It is designed to deliver a functional copy of the phenylalanine hydroxylase (PAH) gene to liver cells. The PAH gene is responsible for the production of an enzyme that breaks down the amino acid phenylalanine. In individuals with phenylketonuria, a mutation in the PAH gene leads to a deficiency of this enzyme, resulting in the accumulation of phenylalanine in the body.

Mechanism of Action

Eladocagene exuparvovec works by introducing a functional copy of the PAH gene into the patient's liver cells. This is achieved through the use of a recombinant adeno-associated virus vector, which is engineered to carry the PAH gene. Once inside the liver cells, the PAH gene is incorporated into the cell's own DNA, enabling the cell to produce the PAH enzyme and thereby break down phenylalanine.

Clinical Trials

As of 2021, eladocagene exuparvovec is in Phase 3 clinical trials. The primary endpoint of these trials is the change in blood phenylalanine levels from baseline. Secondary endpoints include the change in dietary phenylalanine tolerance and the change in neuropsychiatric symptoms associated with phenylketonuria.

Potential Impact

If approved, eladocagene exuparvovec could provide a significant advancement in the treatment of phenylketonuria. Current treatments for this condition primarily involve dietary restrictions to limit phenylalanine intake. However, these dietary restrictions can be difficult to adhere to and do not address the underlying genetic defect. By providing a functional PAH gene, eladocagene exuparvovec has the potential to address the root cause of phenylketonuria and improve patient outcomes.

See Also

• Gene therapy
• Phenylketonuria
• BioMarin Pharmaceutical
• Clinical trial
• Adeno-associated virus
• Phenylalanine hydroxylase