BACKGROUND: Neurofibromatosis type 1 (NF1), a rare genetic disease, often appears in early childhood. Plexiform neurofibromas (PNs) are benign, often painful neural tumors that develop in ~30-50% of patients with NF1. The burden of NF1 and PNs in Canada is understudied, lBackground: Neurofibromatosis type 1 (NF1), a rare genetic disease, often appears in early childhood. Plexiform neurofibromas (PNs) are benign, often painful neural tumors that develop in ~30-50% of patients with NF1. The burden of NF1 and PNs in Canada is understudied, limiting the ability to measure therapeutic value of new treatments. This study describes treatment patterns and healthcare resource utilization (HCRU) of pediatric patients with NF1 and ≥1 unresectable PN in Canada prior to selumetinib approval.
METHODS: This retrospective chart review extracted data across 3 Canadian multispecialty healthcare sites. Pediatric patients aged ≤18 years were included if diagnosed with NF1 from 1 January 2000 through 30 June 2020, had ≥1 unresectable PN, were followed for ≥12 months, and had ≥3 visits to a specialty clinic before 30 June 2021. All analyses were descriptive.
RESULTS: This study included 53 patients, with 35 (66.0%) reporting PN symptoms. The median age of first unresectable PN diagnosis was 5.0 years. Median follow up was 99.0 months. All patients had ≥1 NF1-related manifestation. Twenty-two patients (41.5%) reported only symptomatic unresectable PN, 18 (34.0%) reported only asymptomatic unresectable PN, and 13 (24.5%) reported both. Twenty-eight patients (52.8%) received treatment for unresectable PN(s). Among patients receiving treatment (n=28), 13 patients (52%) with symptomatic and 1 patient (33.3%) with only asymptomatic PNs underwent debulking or partial resection; 7 of these patients (all with symptomatic PNs, 53%) reported ≥1 complication. Only patients with symptomatic PNs received surgeries other than debulking or partial resection (n=13, 52%). More patients with symptomatic PNs received chemotherapy (16, 64%) and radiotherapy (2, 8%) than patients with asymptomatic PNs (1 and 0 patients, respectively). Pharmacotherapy (e.g., kinase inhibitors, pain medications) was received by 84% of patients with symptomatic and 66.7% with only asymptomatic PNs who received any treatment. PN(s) progressed for 20 patients (71.4%) during or after treatment. All patients (n=53) received outpatient specialist care, mostly ophthalmologists, orthopedic surgeons, and endocrinologists. More patients with symptomatic PNs visited the emergency department (54.3%) and were hospitalized (60%) than patients with only asymptomatic PNs (50% and 22.2%, respectively). Five patients, all with symptomatic PN, had ≥1 malignant PNs.
CONCLUSIONS: Patients with NF1 and unresectable PN(s) face substantial monitoring and treatment burdens, resulting in high HCRU. Specific unmet needs for these patients included the high rate of supportive care treatment and economic burden. This is one of the first studies to characterize burden of NF1 and PNs in Canada
