Intrathecal Gene Therapy for Giant Axonal Neuropathy.

ABSTRACT:

Background

Giant axonal neuropathy is a rare, autosomal recessive, pediatric, polysymptomatic, neurodegenerative disorder caused by biallelic loss-of-function variants in GAN, the gene encoding gigaxonin.

Methods

We conducted an intrathecal dose-escalation study of scAAV9/JeT-GAN (a self-complementary adeno-associated virus-based gene therapy containing the GAN transgene) in children with giant axonal neuropathy. Safety was the primary end point. The key secondary clinical end point was at least a 95% posterior probability of slowing the rate of change (i.e., slope) in the 32-item Motor Function Measure total percent score at 1 year after treatment, as compared with the pretreatment slope.

Results

One of four intrathecal doses of scAAV9/JeT-GAN was admin

SUBMITTER: Bharucha-Goebel DX 

PROVIDER: S-EPMC11973737 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature