ABCD1 gene therapy

ABCD1 gene therapy (specifically the version developed by the Chinese PLA General Hospital) is an investigational in vivo gene therapy for the treatment of X-linked adrenoleukodystrophy (X-ALD). Unlike ex vivo hematopoietic stem cell gene therapies such as elivaldogene autotemcel, this approach involves the direct intrathecal administration (via brain or lumbar puncture) of a lentiviral vector carrying a modified ABCD1 gene. The therapy aims to deliver a functional copy of the ABCD1 gene directly to the central nervous system to restore the production of the adrenoleukodystrophy protein (ALDP). ALDP is essential for the transport of very long-chain fatty acids (VLCFAs) into peroxisomes for degradation; its deficiency leads to VLCFA accumulation and progressive demyelination of the brain. By restoring this pathway, the therapy seeks to halt neurological decline and improve clinical outcomes in patients with X-ALD.