Neuren Pharmaceuticals (ASX:NEU) has announced the addition of SYNGAP1-related disorder to the development pipeline for its investigational therapy NNZ-2591, marking another step in the company’s strategy to target rare, genetically defined neurodevelopmental disorders.
SYNGAP1-related disorder is caused by loss-of-function mutations in the SYNGAP1 gene, which encodes a protein essential for regulating synaptic plasticity and maintaining the balance between excitatory and inhibitory signalling in the brain. The condition, which often presents in early childhood, is characterised by developmental delay, intellectual disability, epilepsy, speech impairments, autism spectrum features, and low muscle tone. It is considered a rare disease, with an estimated prevalence of 1 in 30,000–50,000, though underdiagnosis is common.
NNZ-2591 is an orally administered small molecule derived from a naturally occurring neurotrophic peptide. Preclinical studies in related disorders have shown the compound can normalise synaptic signalling, improve neuronal connectivity, and reduce neuroinflammation. Neuren has already advanced NNZ-2591 into clinical trials for Phelan-McDermid, Angelman, Pitt Hopkins, and Prader-Willi syndromes, all of which share overlapping mechanisms of synaptic dysfunction with SYNGAP1-related disorder.
According to Neuren, the decision to include SYNGAP1 reflects both the strong scientific rationale and the pressing unmet medical need. There are currently no approved disease-modifying treatments for SYNGAP1-related disorder, and existing therapies focus only on managing symptoms such as seizures and behavioural challenges.
The company is expected to begin preclinical validation in SYNGAP1 animal models before moving to patient trials, following a similar development path to its other NNZ-2591 programs.
Neuren’s expansion underscores its goal of leveraging NNZ-2591’s potential across multiple rare genetic conditions, offering hope to families affected by disorders that have historically lacked targeted therapeutic options.