Insights from a Multi-Country Survey: Healthcare Providers’ Perspectives on the Management of Adults with Neurofibromatosis Type 1 and Plexiform Neurofibroma

Neurofibromatosis type 1 (NF1) is a genetic, multi-system disorder characterized by a range of manifestations. Approximately 50% of patients with NF1 develop peripheral nerve sheath tumors [plexiform neurofibroma (PN)], which can cause substantial morbidity and often progress into adulthood. Historically, NF1-PN research has focused on pediatric patients; however, less is known in adult patients, in whom treatment options are also limited. This study aimed to provide insights into the management and treatment challenges in adults with NF1-PN from the perspective of healthcare providers (HCPs). Two separate studies, one in the US and one across multiple countries (Canada, China, France, Germany, Japan, Italy, Spain, and the UK), were conducted with a mixed-methods, double-blinded design among HCPs who treat adults with NF1-PN. Qualitative interview data were collected to explore survey responses (US) or to inform quantitative study design (multi-country); quantitative data were collected through online surveys. Overall, 4 and 16 HCPs participated in the qualitative portion of the US and multi-country studies, whereas 41 and 124 HCPs participated in the quantitative portion, respectively. Physical examinations and radiologic imaging were used for diagnosis of NF1-PN across both studies, but family history was more frequent in the multi-country study (81–83% multi-country; 68–75% US). HCPs reported managing multiple high-burden manifestations, including brainstem or optic gliomas, hearing issues, neurocognitive or visual impairment, and neuropathic pain, resulting in patients missing an average of 6–8 days from school or work per month. Approximately 17–25% of patients drop out of care when transitioning from pediatric to adult care with lack of support/processes/guidelines noted as key challenges. These results highlight unmet clinical needs in treatment of adults with NF1-PN worldwide; specifically, limited treatment options for PN growth and symptoms. HCPs identified need for better educational resources for patients and improved transition-of-care processes/resources. Neurofibromatosis type 1 (NF1) is a genetic condition usually diagnosed in childhood. People with NF1 can have multiple disease symptoms, including non-cancerous tumors around the nerves called plexiform neurofibromas (PN), which can continue into adulthood. More information is needed to understand current treatment practices and gaps when children move into adult care. This study aimed to understand the experiences, approaches, and challenges of doctors when caring for adults with NF1-PN. Two studies were run, one in the US and one across multiple countries (Canada, China, France, Germany, Italy, Japan, Spain, and the UK); both included doctors caring for adults with NF1-PN. Descriptive information (via interviews) and numerical data (via surveys) were collected. Overall, 41 doctors were included in the US study and 124 in the multi-country study. The most common signs/symptoms for adults with NF1-PN were neurofibromas, café-au-lait macules, and neuropathic pain. Doctors found that bone and vision-related symptoms were the largest burdens to their patients. In children, care focused on managing neurocognitive problems and neurofibromas. Doctors reported that patients missed approximately 6–8 days of school or work each month due to their symptoms. Approximately half of doctors said their patients changed to a new practitioner when they reached adulthood and around a quarter of patients “dropped out” of care, mostly because their symptoms stabilized and/or their disease did not worsen. These findings highlight the need for further research to improve transition processes and care for adults with NF1-PN.