Presentation (CTI)

OBJECTIVES: Glycogen Storage Disease type Ia (GSDIa) is a rare, inherited, autosomal recessive disease with deficiency of glucose-6-phosphatase (G6PC) that is associated with substantial humanistic burden, requiring the frequent consumption of exogenous glucose (e.g., uncooked cornstarch) for patient survival. Using qualitative interviews, we explored the patient experience of GSDIa and expectations for treatment at Baseline prior to treatment with blinded investigational product in the ongoing, Phase 3, double-blind, randomized, placebo-controlled study of DTX401, a gene therapy for the treatment of GSDIa in patients 8 years of age and older (NCT05139316).
METHODS: Trial participants were asked to complete a 30-minute telephone interview between randomization and dosing. Following ethics approval, interviews were conducted using a semi-structured interview guide and audio-recorded with participant permission. Data were transcribed, coded, and content analyzed.
RESULTS: Of the total trial sample dosed at Baseline (N=46), 43 participants (94%; n=26 [60%] adults ≥18 years, n=17 [40%] pediatric ages 8 to <18 years) completed Baseline interviews. Most participants (n=41, 95%) reported low blood sugar (ie, hypoglycemia) despite best efforts for condition management. Other frequently mentioned symptoms of hypoglycemia included tiredness, feeling hungrier than usual, irritability, shakiness, and difficulty concentrating. Low blood sugar and tiredness were identified as the most important symptoms to treat. Impacts on daily life included physical activity/exercise, diet/treatment regimen (eg, having to plan ahead, inconvenience of following the diet), emotional (eg, worry about missing a dose, feeling left out, feeling frustrated), physical appearance, sleep quality, and school/work performance. While physical, social and diet impacts were identified as important to treat, the most frequently reported expectation for treatment benefit was reduction in daily cornstarch intake.
CONCLUSIONS: Qualitative within-trial interviews helped to demonstrate the substantial burden faced by patients with GSDIa and identify goals and expectations for treatment.