Introduction: LGMD Type 2I/R9 is caused by bi-allelic loss-of-function of the Fukutin-Related Protein (FKRP) gene, which results in hypoglycosylation of alpha-dystroglycan (?DG). BBP-418 (Ribitol) is […]
Protein therapeutics may induce unwanted immune responses, including IgG anti-drug antibodies (ADAs), and uncertainty remains regarding the impact of immunogenicity on late-onset Pompe disease (LOPD) […]
Background: Gene therapy with an adeno-associated virus serotype 8 (AAV8) vector (AAV8-LSPhGAA) could eliminate the need for enzyme replacement therapy (ERT) by creating a liver […]
Background: Juvenile myasthenia gravis (MG) is a rare autoimmune disorder, with an estimated US incidence of 1.2 per million person-years. Manifestations can range from mild […]
Background: Ravulizumab is a potent terminal complement C5 inhibitor. Engineered to have a long half-life that permits a maintenance dosing interval of 8 weeks, ravulizumab […]
Background: Avalglucosidase alfa (AVAL), a recombinant human GAA enzyme replacement therapy with increased mannose-6-phosphate content for increased cellular uptake compared with alglucosidase alfa (ALGLU), is […]
Background Spinal muscular atrophy (SMA) is a severe, progressive neuromuscular disease that affects individuals with a broad age range and spectrum of disease severity. Risdiplam […]
Background: NURTURE is an ongoing study (NCT02386553) of intrathecal nusinersen initiated in presymptomatic infants with 2 or 3 SMN2 copies. Enrolled infants were ?6 weeks […]
Apitegromab is an investigational, fully human, monoclonal antibody that by selectively inhibiting activation of myostatin aims to improve patients' motor function. TOPAZ is a 3-cohort, […]