OBJECTIVES: The LC-FAOD Odyssey study collects medical record data and prospective patient- and caregiver-reported outcomes (PROs). Data are used to assess the real-world impact of LC-FAOD and treatment effectiveness.

METHODS: Survey results from LC-FAOD patients in the United States enrolled in Odyssey from August 2020–August 2022 were included. All patients or caregivers of patients <18 years provided informed consent, with additional assent for children 8–17 years. Subjects completed baseline surveys with optional quarterly follow-up surveys. PRO data include disease management, symptoms, treatment impact and quality-of-life (EQ-5D). Baseline results were reported by subject type and by current treatment (triheptanoin or medium-chain triglycerides [MCTs]). EQ-5D scores were reported among adult patients from baseline to first follow-up.

RESULTS: Twelve adult patients and 22 caregivers were analyzed. Eight of 12 adult patients were currently on triheptanoin, and one was on MCT. Eleven (50%) and nine (41%) caregivers reported their children on triheptanoin and MCT, respectively. Muscle impairments, need to limit exercise, physical fatigue, and rhabdomyolysis were ranked with highest impact on LC-FAOD patients’ lives regardless of treatment or age, with greater impact reported by adults. Triheptanoin received high effectiveness scores (mean 5+) in addressing heart conditions, muscle weakness/impairment, hypoglycemia, rhabdomyolysis, physical fatigue, mental fatigue, and eye conditions among pediatric patients. Triheptanoin was reported to be more effective in addressing most symptoms versus MCT except for the need to limit exercise (same score). Adults on triheptanoin reported high effectiveness scores on muscle weakness/impairment, rhabdomyolysis, peripheral neuropathy, and need to limit exercise. Adult patients on triheptanoin had average EQ-5D summary scores of 0.63 and 0.73 from baseline to follow-up, driven by better mobility and daily activities.

CONCLUSIONS: Physical function related symptoms mostly impact LC-FAOD patients’ lives, especially among adults. Triheptanoin was effective in addressing those symptoms and improved quality of life for adult patients in physical functioning domains.