The European Brain Council (EBC), in collaboration with Neurofibromatosis Patients United (NFPU), is pleased to launch the ‘Rethinking Neurofibromatosis Type 1’ project on the occasion of EBC’s Rare Disease Day event, held on February 24th, 2026 in Brussels. Neurofibromatosis is a rare genetic disease, that includes three different diseases that affect over 250,000 people in Europe. All are genetic diseases that can cause the growth of tumors on the nerves anywhere in the body, with severe consequences. Patients can go blind, deaf, develop chronic pain or life threatening tumors, amongst a large variety of other potential symptoms.
The primary aim of this study is to generate in-depth, pan-European evidence on the challenges and barriers to accessing care, as well as the psychosocial burden, quality of life and unmet needs experienced by people living with neurofibromatosis type 1 (“NF1”) and their caregivers. The study aims to capture the experience of both children and adults. The survey will be co-designed with patient representatives and clinical experts who will be part of the established Expert Advisory Group to ensure it reflects real-life concerns and lived experience.
This project is supported by Neurofibromatosis Patients United (NFPU). All outputs are non-promotional and not specific to any particular treatment or therapy.