OBJECTIVES: Glycogen Storage Disease Type Ia (GSDIa) is a rare inherited glucose-6-phosphatase deficiency characterized by glycogen accumulation in organs and tissues. Despite best practices with dietary carbohydrate supplementation, patients experience serious complications and require frequent care. This retrospective cohort study quantified healthcare resource utilization (HRU) and management costs associated with GSDIa.

METHODS: The IQVIA Pharmetrics Plus database was searched for patients with ≥2 GSDI claims (ICD-10-E74.01) from January 2016−February 2020 with ≥12 months continuous insurance enrollment beginning February 2019 (one year follow-up before COVID-19), and no inflammatory bowel disease diagnoses (may indicate GSDIb). Non-GSDIa comparators were identified using 10:1 exact age, sex, payer type, and enrollment start/end date matching. HRU and costs were stratified by care setting.

RESULTS: In total, 557 patients with GSDIa and 5570 comparators were included. Patients with GSDIa versus comparators more often had ≥1 (45.8% vs 10.2%) or ≥2 hospitalizations (26.6% vs 2.3%), had higher mean (95% CI) annual hospitalizations: 0.5 (0.4−0.6) vs 0.1 (0.1−0.1) per patient per year (PPPY) and longer mean length-of-stay: 3.1 (2.4−3.8) vs 0.4 (0.2−0.5) days. Patients with GSDIa versus comparators had more annual visits (95% CI) PPPY in the: emergency department (ED) 1.3 (1.1−1.4) vs 0.3 (0.2−0.3), outpatient setting 5.9 (5.2−6.6) vs 1.2 (1.1−1.3), physician office 10.5 (9.5−11.6) vs 6.0 (5.8−6.2), other outpatient setting 9.5 (7.1−11.8) vs 1.5 (1.4−1.7), and pharmacy 12.1 (9.8−14.3) vs 5.0 (4.7−5.2). Patients with GSDIa vs comparators had higher mean (95% CI) annual total healthcare costs overall $33,910 ($27,630−$40,200) vs $4410 ($3910−$4910) and by setting: inpatient $17,100 ($12,510−$21,690) vs $1210 ($920−$1490), outpatient $5860 ($4710−$7000) vs $1010 ($840−$1170), pharmacy $5320 ($3800−$6830) vs $910 ($720−$1090), other outpatient $3160 ($2220−$4110) vs $400 ($310−$480), physician $1680 ($1440−$1910) vs $750 ($710−$780), and ED $800 ($650−$940) vs $150 ($140−$160).

CONCLUSIONS: GSDIa is associated with extensive HRU and costs compared with a matched non-GSDIa population.