Treatment, Resource Use and Costs Among Pediatric Patients with Neurofibromatosis Type 1 and Plexiform Neurofibromas

BACKGROUND: Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition which predisposes individuals to tumors of the nervous system, skin, bones, and eyes. Plexiform neurofibromas (PNs) occur in 20–50% of NF1 cases, causing multiple morbidities and conferring a risk of malignancy. NF1 with PN is poorly characterized in the literature with regard to treatment patterns, healthcare resource utilization, and costs in the real world. METHODS: This was a retrospective analysis of data from a commercial claims database in the US between October 2014 and March 2018. Persons with at least 1 diagnostic code for both NF1 and PN, aged ≤18 years on the index date, and continuously enrolled for ≥12 months before the index date were included. The index date was defined as the date of the first diagnosis of NF1 or PN during the study period, whichever occurred later. Healthcare resource utilization during follow-up included outpatient, inpatient, emergency room (ER), and pharmacy encounters; corresponding costs were calculated as the mean per patient per year (PPPY) in 2018 US dollars. Treatments were classified as PN surgery, pain medication, chemotherapy, radiotherapy, and targeted therapies. All analyses were descriptive. RESULTS: A total of 301 patients were included. In the follow-up period, nearly all patients (99.7%) had outpatient visits, while 81.1% had pharmacy visits, 25.2% had ER visits, and 13.0% had inpatient visits. Mean ± SD [median] total healthcare costs PPPY were $38,292 ± $80,556 [$16,037]. During follow-up, 44.2% of patients used pain medications, 23.9% received chemotherapy, 5.0% underwent surgery for PN, 1.3% received radiotherapy, and 1.0% received targeted therapies. CONCLUSION: Commercially insured pediatric patients diagnosed with NF1 and PN were treated primarily with supportive care, highlighting a substantial unmet need in the United States.