hrp0098p2-372 | Late Breaking | ESPE2024

Caregiver-reported quality of life of patients with MCT8 deficiency: results from a cross-sectional survey

Ofori Akosua , Larkin Mark , Georges Nadia

Introduction: Monocarboxylate transporter 8 (MCT8) deficiency is an ultra-rare genetic disease, associated with severe cognitive and motor disability and symptoms of chronic peripheral thyrotoxicosis. The aimof this analysis is to describe the HRQoL impact experienced by patients with MCT8 deficiency as described by their caregivers.Methods: Informal caregivers of patients with MCT8 deficiency completed an online cross-s...