Perspectives of Adult Patients and Caregivers on the Management and Challenges Associated with Neurofibromatosis Type 1 and Plexiform Neurofibromas: A Multinational Qualitative Survey

Adults with plexiform neurofibromas arising from neurofibromatosis type 1 (NF1-PN) experience a multifaceted range of clinical symptoms and manifestations, which can impact multiple organ systems and reduce quality of life (QoL). This qualitative study aimed to better understand the experiences of adults and caregivers of adults with NF1-PN and their perspectives on treatment, challenges, and unmet needs across several geographic regions. Web-assisted telephone interviews were conducted between January 31, 2024, and April 15, 2024, with adults who had a diagnosis of NF1-PN or with caregivers, focusing on diagnosis, interactions with healthcare professionals (HCPs), transition of care, pain management, and unmet needs. Participants were recruited through HCP referrals, patient organizations, or patient databases. The study included 65 patients with NF1-PN and 14 caregivers in Canada, China, France, Germany, Italy, Japan, Spain, and the UK. Patients reported living with multiple NF1-PN-associated morbidities, including pain, disfigurement, psychiatric disorders, and chronic migraines. NF1-PN impacted daily living from childhood to adulthood and affected relationships and mental and emotional health. Surgery (~50%) and pain medications (~40%) were the most common treatments; nearly all participants (~90%) mentioned the need for disease-modifying treatments. Most patients (~85%) diagnosed as children transitioned to adult care, although there was variability in the transition experience. Some patients (~10%) dropped off during transition; others (~10%) experienced difficulty adjusting to adult specialists. The real-life perspectives of adult patients and caregivers highlighted that NF1-PN has a profoundly negative impact on QoL and mental health. At the time of the study, the only available treatments for this patient population were surgery or medications for symptom management. Participants identified unmet needs, such as a desire for improved treatment options that halt disease progression and reduce pain while being noninvasive, convenient, and accessible. Improved processes for the transition to adult care are needed.