Insights from a Multi-Country Survey: Healthcare Providers' Perspectives on the Management of Adults with Neurofibromatosis Type 1 and Plexiform Neurofibroma.
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INTRODUCTION: 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). METHODS: 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. RESULTS: 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. CONCLUSION: 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.