Adult Patient and Caregiver Perspectives on the Impact of NF1-PN: Insights from a US Qualitative Survey

Background Adults with neurofibromatosis type 1 and plexiform neurofibroma (NF1-PN) experience multiple clinical symptoms and diverse manifestations, which place a burden on patients and impact quality of life. This qualitative study aimed to improve understanding of disease burden, healthcare experience, and unmet needs of adults with NF1-PN in the US, from patient and caregiver perspectives. Methods Telephone interviews were conducted with adults who had a diagnosis of NF1-PN, or with caregivers, focusing on patient background, diagnosis, interactions with healthcare professionals, disease and symptom management, transition of care, and unmet needs. Results The study included 11 adult patients with NF1-PN and two caregivers; 85% of patients were diagnosed in childhood. Patients lived with multiple conditions associated with NF1, including pain disorders, psychiatric disorders, and chronic migraines. NF1-PN impacted daily living, work, school, relationships, and mental and emotional health. Most patients (82%) transitioned from pediatric to adult care, although there was variability in the transition experience. Some dropped out of care (23%) due to various factors, including time constraints, physician location, financial insecurity, lack of insurance, and perception of no available treatments/cure. Medical management primarily comprised medications to relieve symptoms associated with NF1 manifestations. Respondents identified a need to be more informed about their care. Improved treatment options for NF1-PN are desired, particularly medications that stop or slow PN growth. Conclusions The study demonstrated that NF1-PN has a profound impact on adult patients’ lives. Several unmet needs exist for the adult population, including medications to treat the PN and its associated symptoms.