ApoC-III Antisense Oligonucleotide Therapy Used in Glycogen Storage Disease Type 1a.

backgroundGlycogen storage disease type 1a (GSD1a) is an autosomal recessive disorder characterized by impaired glycogenolysis and gluconeogenesis. Individuals with GSD1a manifest significant hypertriglyceridemia refractory to dietary and lipid-lowering medication therapies. Apolipoprotein C-III antisense oligonucleotide (apoCIII-ASO) therapy is approved to reduce severe hypertriglyceridemia in familial chylomicronemia syndrome but is also effective in moderate hypertriglyceridemia of varied genetic backgrounds. EARLY REPORTS SUMMARY: We describe a 22-year-old with GSD1a and hypertriglyceridemia with past pancreatitis despite fibric acid derivative, niacin, and bempedoic acid therapy in whom apoCIII-ASO was associated with triglyceride reduction from 4,951 to 1,643 mg/dL. DISCUSSION: As GSD1a-associated hypertriglyceridemia is often refractory to standard therapies, apoCIII-ASO therapy may offer promise as a treatment. NOVELTY: This case describes the first use of apoCIII-ASO in GSD1a-related hypertriglyceridemia. TAKE-HOME MESSAGE: GSD1a-driven hypertriglyceridemia may be treatable using apoCIII-ASO.