Aims: X-linked hypophosphatemia (XLH) is a rare genetic disease characterized by chronic renal phosphate wasting. In 2018, burosumab became the first US FDA-approved therapy for targeted treatment of XLH. This study examined patient characteristics and disease history among real-world patients with XLH initiating burosumab in the US.
Methods: This retrospective cohort study used Komodo Health’s Healthcare Map™, a real-world de-identified patient-level claims database. Patients had ≥1 claim for familial hypophosphatemia between 01/01/2015 and 06/30/2022 and ≥1 claim for burosumab between 04/01/2018 and 06/30/2022 (index date was the date of first burosumab claim). The study period was the period prior to the index date, ranging 1-7 years. Patient characteristics were measured at index and disease history was measured over the study period and stratified by age; all variables were evaluated descriptively.
Results: 1358 patients were included (mean age 23.5 ± 19.1 years, 62% female, 41% from the southern US). Approximately half (53%) of XLH patients were <18 years at initiation of burosumab. Prior to receiving burosumab, patients had high levels of XLH-related morbidities, which appeared early and increased with age group (Figure). Most patients received conventional therapy for XLH during the study period, including high-dose calcitriol (66% and 56% of patients <18 years and ≥18 years, respectively) and/or phosphate supplements (42% and 44% of patients <18 years and ≥18 years, respectively), prior to burosumab. Opioid use was prevalent among XLH patients prior to burosumab treatment (24% and 51% of patients <18 years and ≥18 years, respectively). Physical therapy use was observed across age groups (18% and 40% of patients <18 years and ≥18 years, respectively).
Conclusions: At the time of burosumab initiation, approximately half of patients with XLH were <18 years of age and had experienced a heavy and progressive disease burden. The prevalence of XLH-related morbidities increased with age.