Dystrophin, the protein product of the largest known human gene, plays a critical role in muscle integrity and function by stabilizing the sarcolemma during contraction […]
Background: Casimersen is an investigational phosphorodiamidate morpholino oligomer designed for exon 45 skipping, which, in patients affected by that mutation, would result in the expression […]
Background: Pompe Disease (PD) is a rare autosomal recessive disorder caused by pathogenic variants in the gene encoding acid α-glucosidase (GAA) that result in complete […]
Background: Thymidine kinase 2 deficiency (TK2d) is an ultra-rare, often lethal autosomal recessive mitochondrial disease in which primary mutations in the nuclear DNA-encoded TK2 gene […]
Background: The lifespan for patients with amyotrophic lateral sclerosis (ALS) is ~3 to 5 years from the time of onset, and the mortality rate is […]
Ryanodine Receptor 1-related myopathies (RYR1-RM) comprise a spectrum of disorders caused by pathogenic variants in the RYR1 gene and are the most common of the […]
Exon duplications that cause Duchenne muscular dystrophy (DMD) are promising candidates for exon skipping therapies because skipping a single exon copy should result in wild-type […]
Background: Type 1 spinal muscular atrophy (SMA) is a severe neuromuscular disease in which untreated infants fail to achieve major motor milestones and typically die […]
IGNITE-DMD is an open-label Phase I/II ascending dose study investigating safety and efficacy of intravenous SGT-001, an AAV9 microdystrophin gene therapy for DMD. SGT-001 is […]