HEREDITARY NEUROPATHIES & ALS
Neuromuscular Disorders(2020)
摘要
GAN is a rare pediatric neurodegenerative hereditary neuropathy affecting the central and peripheral nervous system. Recessive GAN mutations cause dysfunction of gigaxonin, a cytoskeletal regulatory protein, leading to progressive sensorimotor and optic neuropathy, CNS involvement and respiratory failure with death by the 2nd to 3rd decade of life. We are conducting a first-in-human intrathecal (IT) AAV9 mediated gene transfer trial for GAN (NCT02362438). This is a single site, phase I, non-randomized, open label dose escalation study.
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