Treatment Patterns and Healthcare Resource Utilization in Pediatric NF1–Associated Symptomatic PN in the United States from 2000 to 2019

Background Neurofibromatosis type 1 (NF1) is a genetic condition that affects an estimated 1 in 3,000 people worldwide. NF1 is characterized by cutaneous hyperpigmented lesions and nerve-related neoplasia. To identify the unmet needs and understand the potential value of new treatments, the treatment patterns, healthcare resource utilization (HCRU), and clinical outcomes were evaluated in a real-world cohort of 102 pediatric patients with NF1 and plexiform neurofibroma (PN). Methods Retrospective data were collected from patients diagnosed with NF1 and symptomatic, inoperable PNs from 2000 to 2018 across 3 US sites. Data on clinical characteristics, site visits, treatments, and outcomes were collected through 2019. Results Patients with NF1, on average, developed 3.5 symptomatic, inoperable PNs during the study. PN complications included pain (76.5%), disfigurement (45.1%), and motor dysfunction (13.7%). During the study period, which was prior to FDA approval of MEK inhibitors for NF1, available treatments attempted to address the symptoms caused by PNs but did not typically slow or prevent their growth. Surgery was performed for 38.1% of study patients. At follow-up of ≥ 12 months, 62.5% of PNs regrew after surgery. Each year patients made, on average, 6 visits to an outpatient care center and 1 visit to an oncologist. Nearly all patients (99.0%) received at least 1 diagnostic imaging scan, with 3.4 scans per year on average. Conclusions This study describes the high burden of HCRU among pediatric patients with NF1-PN prior to FDA approval of pharmacologic therapies for PN and demonstrates the need for effective treatment options.