Therapeutic targets for Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis
Spinal muscular atrophy (SMA) is a pediatric neuromuscular disease characterized by muscle weakness and massive motor neuron loss, which can lead to death by respiratory failure. Amyotrophic Lateral Sclerosis (ALS) is a motor neuron disorder that affects muscle control, leading to muscle spasticity, weakness, speaking and breathing disease. Currently, no effective treatments exist for either SMA or ALS. This technology describes 37 gene variants as possible therapeutic targets that are altered in SMA, as well as several that are altered in ALS. Of these 37 genes, 13 are vulnerability variants (i.e. variants indicative of SMA) and 24 are resistant variants (i.e. variants that confer resistance to SMA). As such, this technology provides a method of treating both diseases or stopping their progression.
Identifies specific gene targets for up-regulation and increased SMA resistanceIdentifies specific gene targets for down-regulation and decreased SMA susceptibilityIdentifies Pde1c as a highly correlated vulnerability gene for development of SMAMay improve speed and accuracy of testing therapeutics for SMA May be valuable in improving SMA patient careIdentifies PLD1 as a risk factor and a potential therapeutic target in ALS Provides small molecule modulators of PLD1 and other genetic risk factors that treat or ameliorate ALSPatent information:Patent Pending (WO/2016/054083) Tech Ventures Reference: IR CU13238, IR CU15008
Gene variants provide novel therapeutic targets (including Pde1c) to treat or ameliorate SMA progressionGene variants linked to SMA resistance provide insight into endogenous mechanisms for slowing or stopping SMA progressionInvestigation of novel therapeutic targets for other neuromuscular diseasesALS-linked gene variants (including PLD1) provide novel therapeutic targets for treatment of ALSSmall molecule inhibitors for PLD1 and other ALS risk factor genesAssays for SMA and ALS susceptibility
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美國
