The title of the project: A Cross-European Study of Access to Care, Psychosocial Burden and Unmet Needs Among Patients Living with Neurofibromatosis Type 1. The project will officially kick off during EBC’s Rare Disease Day 2026 event, ‘Advancing the Rare Brain Disease Ecosystem‘.

About Neurofibromatosis Type 1 (NF1)

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.

A particular focus will be placed on the transition from paediatric to adult care – a widely recognised vulnerability point for NF1 patients. Despite increasing awareness, this transition often remains poorly managed, leading to gaps in care continuity, delayed treatment, and additional psychosocial stress for both patients and families. By systematically mapping these barriers and unmet needs, the study seeks to inform policy makers and healthcare planners at both national and EU levels, while also equipping patient organisations with robust data to strengthen their advocacy and support strategies.

Neurofibromatosis Patients United (NFPU) is the European Neurofibromatosis umbrella patient association. Neurofibromatosis patients all around Europe face very similar challenges: limited access to proper medical an psychological care, limited access to information, limited access to clinical trials, little awareness in the general public and also limited awareness among health care professionals. These challenges are easier to overcome together. For that they built a strong joined European association. European NF patient organisations need to exchange ideas and best practice models constantly. If they choose the best ideas, have and develop a common strategy and implement this strategy together all over Europe, they can save a lot of resources, while maximizing the impact of their activities.

The European Brain Council, in close collaboration with the European Paediatric Neurology Society (EPNS) and the European Association of Neurosurgical Societies (EANS) and as well as in partnership with an academic partner (to be identified), will articulate the study according to three phases to be rolled out according to the project timelines. The European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS) will also be involved as the network focuses on Neurofibromatosis, along with other genetic tumor risk syndromes and it specifically works on Neurofibromatosis type 1 (NF1) and related conditions.

This project is supported by Neurofibromatosis Patients United (NFPU).