Glycogen Storage Disease Type Ia: A Retrospective Claims Analysis of Complications, Resource Utilization, and Cost of Care

Background: Glycogen storage disease type Ia (GSDIa) is a rare inherited disorder resulting in potentially life-threatening hypoglycemia, metabolic abnormalities, and complications often requiring hospitalization. Objective: This retrospective database analysis assessed the complications, resource utilization, and costs in a large cohort of patients with GSDIa. Methods: We conducted a retrospective cohort study of GSDIa patients and matched non-GSDIa comparators utilizing the PharMetrics® Plus database. International Classification of Diseases, Tenth Revision (ICD-10) diagnosis codes in any billing position for inpatient and outpatient claims (January 2016–February 2020) were identified for complications related to GSDIa. Healthcare use and costs were assessed by setting of care (inpatient, outpatient, physician office, emergency department, and pharmacy). Results: Overall, 557 patients with GSDIa and 5570 matched comparators (male, 63%; adults, 67%) were identified. The most frequent complications in patients with GSDIa vs comparators included anemia due to enzyme disorders (odds ratio, 4.0 × 103; 95% confidence interval, 555.9–2.8 × 104), hepatocellular adenoma (305.9; 41.6–2.2 × 104), liver transplantation (164.6; 21.8-1.2 × 103), and gastrostomy (152.2; 61.1-379.2), as well as acidosis (45.5; 29.4-70.3), hepatomegaly (43.6; 29.1-65.3), hyperuricemia (23.6; 11.9-46.9), and hypoglycemia (20.2; 14.3-28.7). Chronic complications (eg, gout, osteoarthritis, chronic kidney disease, and neoplasms) were more common in adults with GSDIa, whereas acute complications (eg, poor growth, gastrostomy, seizure, and hypoglycemia) were more common in children with GSDIa. Patients with GSDIa more often required hospitalization (0.53 vs 0.06 hospitalizations per patient per year) vs comparators, including 2 or more hospitalizations (26.6% vs 2.3%), longer length of stay (3.1 vs 0.4 days), and more annual visits in all care settings, including 4.3 times more visits in the emergency department. Mean annual total healthcare costs were higher for GSDIa patients vs comparators ($33 910 vs $4410). Discussion: In this large, retrospective database analysis, complications observed among patients with GSDIa were consistent with prior reports and demonstrate the chronic and progressive nature of the disease. Resource utilization was substantial in GSDIa patients, and mean annual total healthcare costs were almost 8 times higher than those of comparators. Conclusions: GSDIa is associated with numerous potentially serious and sometimes fatal complications, extensive resource utilization, and high management costs.