Characteristics, treatment patterns, healthcare resource use, and costs among adult patients diagnosed with neurofibromatosis type 1 and plexiform neurofibromas in the United States.
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BACKGROUND: Neurofibromatosis 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. METHODS: Data were obtained from the Merative™ MarketScan® Commercial and Medicare Databases (01/01/2016-12/31/2022). Adults diagnosed with NF1 and PN were matched to controls without NF1-PN on sociodemographic characteristics (1:5 ratio). Continuous enrollment for ≥ 12 months before and ≥ 3 months after the index diagnosis (defined as the latter of NF1 or PN diagnosis by ICD-10-CM codes) was required for all patients. Treatment patterns, all-cause, and NF1/PN-specific HRU and costs were characterized during the follow-up period. A generalized linear model with Poisson or Tweedie distribution was used to compare all-cause HRU and costs, respectively, between patients and controls. RESULTS: This 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). CONCLUSIONS: This 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.