Characteristics, treatment patterns, healthcare resource use, and costs among adult patients diagnosed with neurofibromatosis type 1 and plexiform neurofibromas in the United States.

backgroundNeurofibromatosis type 1 (NF1) is a progressive rare genetic disorder that frequently involves the development of plexiform neurofibromas (PN). Until recently, there was no approved pharmacological treatment for adults with NF1-PN, and the disease burden is not well understood. This real-world retrospective study aimed to describe treatment patterns, healthcare resource utilization (HRU), and costs among adults with NF1-PN in the US.

methodsData were obtained from the Merative™ MarketScan

resultsThis study included 944 patients with NF1-PN and 4,720 controls. The mean age was 39.6 (standard deviation: 15.6) years and 59.6% were female. Over a mean follow-up of 25.8 months, the most common treatment among patients with NF1-PN was prescription pain medication (69.5%), followed by debulking surgeries (22.9%), cytotoxic chemotherapy (7.0%), radiotherapy (4.8%), and targeted therapies (e.g., MEK inhibitors) (4.7%). All-cause HRU was significantly higher among patients than controls across all settings (1.6 vs. 0.27 inpatient days per patient per year [PPPY], 18.8 vs. 9.1 outpatient visits PPPY, 0.80 vs. 0.53 emergency department visits PPPY), with adjusted incidence rate ratios of 1.4 to 4.2 (all p < 0.001). Among patients with NF1-PN, 53% and 18% of all-cause inpatient days and outpatient visits, respectively, were attributable to an NF1 or PN diagnosis. The adjusted mean total healthcare costs were $23,516 PPPY higher among the NF1-PN ($34,398 PPPY) versus matched control ($6,149 PPPY) cohort, with a cost ratio of 4.3 (p < 0.001).

conclusionsThis real-world study identified a substantially higher HRU and economic burden among adult patients with versus without NF1-PN across all settings, highlighting the need for new treatments to manage NF1-PN among this population.