Health-related quality of life (HRQoL) among pediatric patients with neurofibromatosis type 1 (NF1) and plexiform neurofibroma (PN) in the United States (U.S.).

Abstract

10042 Background: PNs occur in 30-50% of pediatric patients with NF1, often resulting in debilitating pain and dysfunction. Children with NF1 PN report significantly worse HRQoL than the general population, though real-world evidence is limited. Research is needed to better characterize HRQoL among this patient population in the US. Methods: Patients ages 8-18 years with NF1 PN in the US who were treatment naïve or new users of selumetinib (≤1 month of use) were recruited through the Children’s Tumor Foundation to participate with their caregivers in an online cross-sectional survey in December 2020 and January 2021. Caregivers of similar patients ages 2-7 years also participated. Measures included the Pediatric Quality of Life Inventory (PedsQL; Acute version), EQ-5D-Y, Pain Interference Index (PII), Numeric Rating Scale (NRS-11), and the Patient-Reported Outcomes Measurement Information System (PROMIS) mobility and upper extremity functioning subscales. Patients provided self-reported responses; caregivers provided proxy responses and patient demographic and clinical characteristics. Results: 61 patients and 82 caregivers responded to the survey. Median (range) age of patients was 12.0 (8-14) years, and 53.7% were female. Most were treatment naïve (97.6%), white/Caucasian (85.4%), and had an NF1 and PN diagnosis for > 5 years (80.5% and 68.3%, respectively). On the PedsQL (range: 0-100; higher = better; mean scores typically > 80 among healthy patients), mean patient scores were 50.3 (school functioning), 56.1 (emotional functioning), 60.7 (social functioning), and 63.7 (physical functioning); the mean total score was 58.5.Caregiver-proxy mean scores were similar, ranging from 54.0 for school functioning to 65.0 for physical functioning, with a mean total score of 59.1. On the EQ-5D-Y, more than half of patients reported experiencing “some” or “a lot” of problems with pain or discomfort (65.6%) and with feeling worried, sad or unhappy (62.3%). Among patients with pain in the last 7 days, mean scores on the PII (range: 0-6; higher = more interference) were 3.0 for patients and 2.7 for caregiver proxies. Almost 75% of them reported moderate or severe pain on the NRS-11. Among patients with movement difficulty in the past 7 days, mean t-scores from the PROMIS scales (distribution mean = 50; higher = better) were 40.2 for mobility and 39.5 for upper extremity functioning among patients and 36.0 and 29.1, respectively, among caregivers. Within dyads, patients generally reported better functioning, on average, than their caregiver proxies. Conclusions: The humanistic burden of NF1 PN among this pediatric patient population is substantial, especially regarding pain, emotional functioning, and physical functioning. Results highlight an unmet need to be addressed for improving HRQoL in pediatric patients with NF1 and PN.