OBJECTIVES: Glycogen Storage Disease Type Ia (GSDIa) is a rare genetic condition that results in the improper breakdown and storage of glycogen, causing hypoglycemia. The objective of this research was to collect patient- and caregiver-reported information GSDIa characteristics and the associated impacts on daily life, as there is little available patient-reported literature.

METHODS: Following ethics approval, participants were recruited by clinical investigators through their respective academic institutions as well as patient advocacy groups. Three separate surveys were administered via SurveyMonkey to caregivers, adolescent patients, and adult patients, respectively. Respondents were asked questions (e.g., multiple choice and open response) about a wide range of topics, including signs and symptoms, impacts, diet and eating, treatment regimens, and the most important aspects of GSDIa to improve.

RESULTS: Twenty-six participants completed a survey (n=9 caregivers [ages 32-66], n=11 adults [ages 18-55], and n=6 adolescents [ages 12-17]). Symptoms of hypoglycemia reported included: sweating, fatigue, hunger, shakiness, pale skin, anxiety, and seizures. The most notable impacts were: negative feelings about appearance or weight (80.0% of adults), lack of sleep (66.7% of caregivers and 90.0% of adults), and difficulty with physical activity (66.7% of caregivers). All respondents used corn starch disease management and also restricted their intake of non-glucose sugars. The most frequent impacts of corn starch management that caregivers reported were disruption of their child’s day and the inability to do activities that other children do (e.g., sleepovers); the most frequent impact adults reported was poor sleep quality. Respondents ranked hypoglycemic events and diet restriction as the two aspects of GSDIa that impacted their lives the most.

CONCLUSIONS: The results from this study provide valuable insights into living with GSDIa and will contribute to existing GSDIa literature in terms of disease and management burden. Additionally, these results will aid in the design and selection of endpoints for clinical trials.