Spinal muscular atrophy (SMA) is caused by mutations in the SMN1 gene, which encodes survival motor neuron 1, leading to reduced protein expression levels and degeneration of motor neurons in the spinal cord, with the consequent muscle atrophy. There is thus a need for new AAV gene therapies for SMA that confer better safety and efficacy.

Researchers from Skyline Therapeutics (Shanghai) Co. Ltd. presented preclinical data for the new recombinant AAV vector therapeutic SKG-0106, being developed for the treatment of neovascular (wet) age-related macular degeneration (AMD).

Fabry disease is a metabolic disease characterized by a deficiency in the lysosomal α-galactosidase enzyme caused by mutations in the GLA gene. This leads to substrate accumulation in the lysosomes, cellular dysfunction and organ damage.

Researchers from Guilin Medical University (GLMU) reported the discovery and preclinical evaluation of novel indoleamine 2,3-dioxygenase 1 (IDO-1) inhibitors as potential anticancer agents. Synthesis and optimization of a series of chromone-oxime derivatives containing piperazine sulfonamide moieties led to the identification of compound [I] as the lead IDO-1 inhibitor.

Patients with irritable bowel syndrome (IBS) have chronic abdominal pain as a result of visceral hypersensitivity. Voltage-gated sodium channels control cellular excitability and are involved in the pathophysiology of several functional gastrointestinal disorders. Researchers from Nocion Therapeutics Inc. and the University of Oklahoma recently reported on the preclinical testing of NTX-1175, a sodium-channel blocker, in rat models of acute colonic hypersensitivity to distension.

Researchers have used cell culture experiments to understand how gene expression was affected in a patient with a rare pain insensitivity syndrome, and have identified a network of hundreds of genes whose expression was changed compared to sex-matched controls. Published online in the journal Brain on May 23, 2023, the research is one step toward translating a rare mutation into medications that could provide benefits for common ailments.