AES 2023 | Gene therapy advancements for SSADHD and monogenic epilepsies

Henry Lee, PhD, Boston Children’s Hospital, Harvard Medical School, Boston, MA, provides insights into groundbreaking research on gene therapy for the rare disorder succinic semialdehyde dehydrogenase deficiency (SSADHD). This condition, characterized by impaired GABA metabolism, leads to an accumulation of inhibitory neurotransmitter in the brain, causing intellectual disabilities, speech delays, and epilepsy. Dr. Lee explores the rationale for gene replacement therapy using an adeno-associated virus (AAV) approach. The study employs a novel mouse model utilizing a Cre-lox recombination strategy, allowing precise control of gene expression and enabling them to mimic the situation seen in SSADHD. Encouraging results indicate the reversibility of seizure conditions, providing hope for gene therapy’s efficacy. The ongoing research aims to generate relevant data from the novel mouse model to guide the selection of viral vector candidates for future clinical trials, showcasing a promising path towards transformative therapies for SSADHD and other rare monogenic epilepsies.This interview took place during the American Epilepsy Society (AES) 2023 Annual Meeting congress in Orlando, FL.

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