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

BACKGROUND: Glycogen 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.