Objectives: Rett syndrome (RTT) is a rare disorder that mostly affects females, causing neurodevelopmental delay and physical disability. There is currently no cure for RTT and literature on the burden associated with RTT is limited. This study described the healthcare resource utilization (HRU) of female patients with RTT in the United States (US).

Methods: This retrospective cohort study identified female patients with an International Classification of Diseases (10th edition) diagnosis code of RTT using medical claims from a large US administrative claims database (1-Nov-2016 to 31-Oct-2019). Patients with diagnosis codes for cerebrovascular disease or brain trauma were excluded. All-cause and RTT-related HRU were described following the first observed diagnosis of RTT. RTT-related HRU was defined as a medical service claim with a diagnosis of RTT in any position. Incidence rates were reported per patient-year (PPY), overall and for pediatric (age <18) and adult (age ≥18) subgroups.

Results: The study included 5,940 female patients with RTT (pediatric: 3,078; adult: 2,862), with median (interquartile range) age of 17.0 (9–28) years. The overall incidence rate of all-cause HRU was 44.43 visits PPY (pediatric: 52.43; adult: 35.86) and was driven primarily by home and hospice care visits (16.31), outpatient visits (9.58), and therapeutic services visits (7.26). The overall incidence rate of RTT-related HRU was 20.98 visits PPY (pediatric: 25.14; adult: 16.52), comprising nearly 50% of all-cause HRU across pediatric and adult cohorts. As with all-cause HRU, key drivers of RTT-related HRU included home and hospice care visits (7.57), outpatient visits (4.39), and therapeutic services visits (3.83).

Conclusions: Patients with RTT incur substantial HRU burden, with nearly one visit per week and nearly half of all visits attributed to RTT annually. These findings underscore the need for effective therapies to treat RTT, with potential to reduce HRU and caretaker burden and facilitate long-term clinical benefits.