RB001

RB001 is an investigational gene therapy developed for the treatment of Phelan-McDermid Syndrome (PMS) caused by SHANK3 haploinsufficiency. PMS is a rare neurodevelopmental disorder characterized by intellectual disability, severe language delay, autism-like behaviors, hypotonia, and sometimes epilepsy. The underlying cause is typically a deletion or mutation in the SHANK3 gene, which encodes a critical postsynaptic density protein involved in synaptic development and function within the central nervous system. RB001 utilizes an adeno-associated virus (AAV) vector to deliver an optimized SHANK3-minigene directly into the central nervous system via intracerebroventricular (ICV) injection. Preclinical studies have shown that a single ICV dose of RB001 can restore SHANK3 mRNA and protein expression in targeted brain regions of mouse models with SHANK3 mutations, leading to improvements in motor deficits and behavioral abnormalities associated with PMS[6]. The drug is currently being evaluated for safety, tolerability, and preliminary efficacy in pediatric patients.