OBJECTIVES: GSDIa is a rare, progressive, inherited metabolic disorder of carbohydrate metabolism caused by a deficiency of glucose 6-phosphatase, which results in potentially life-threatening hypoglycemia, metabolic abnormalities, and complications often requiring hospitalization. Real-world data (RWD) regarding GSDIa management and patient outcomes are limited. The GSDIa Odyssey study collected RWD to better understand the natural history of GSDIa and identify areas to improve patient care.

METHODS: Non-interventional cohort study that collected retrospective data with the PicnicHealth digital record platform to structure US medical records (clinical notes, medications, laboratory/imaging results, diagnostic reports). The study is HIPAA-compliant and IRB-approved. All patients or caregivers of patients <18 years provided written informed consent, after which medical records were requested, transformed to a timeline, and data were anonymized.

RESULTS: Nine patients with GSDIa were enrolled from December 2020 to February 2023. Median age at enrollment was 20 (range, 5-48) years, with 4 children aged 5-13 years old and 5 adults >18 years old. The majority of patients were female (67%) and White (89%). Median years of retrospective data was 12 (8-16) years, with 22 providers and 7 care sites. The most common conditions and complications in children that resulted in healthcare visits included hypoglycemia, gastrostomy status, and hepatic glycogenosis (hepatomegaly). The most common conditions and complications in adults that resulted in healthcare visits were hypoglycemia, isolated hypertriglyceridemia, and hyperlipidemia (unspecified). Pediatric patients with GSDIa had between 1.4-2.8 times more inpatient, emergency room, and outpatient visits than did adult patients with GSDIa.

CONCLUSIONS: Real-world data extracted from the US healthcare system indicate that children with GSDIa are seen by healthcare providers more frequently than adults with GSDIa. Therapeutic options that treat GSDIa could help to maintain glucose control, minimize healthcare resource utilization, and improve quality of life for patients and their caregivers.