Presentation (CTI)

OBJECTIVES: Neurofibromatosis Type 1 (NF1) is a rare (1 in 3,000) genetic disorder. It makes tumours develop on nerves in the body that may produce serious health issues. Some new drugs, particularly one called selumetinib, have been promising in improving the lives of patients with NF1. But numerous patients in the world are still unable to access these treatments. This study examines the current reasons for this and how it can be remedied.
METHODS: Structured literature review was carried out in PubMed/MEDLINE, Scopus and Google Scholar to get English language publications from 1 January 2020 to 30 June 2026. The terms searched were "Neurofibromatosis Type 1," "NF1," "selumetinib," "mirdametinib," "patient access," "health technology assessment," "reimbursement," and "health policy. Screening and narratively synthesising relevant peer-reviewed studies, regulatory publications and HTA reports were conducted to identify key barriers, access challenges and policy opportunities.
RESULTS: There is recent evidence that inhibitors of MEK have led to better clinical outcomes in NF1 patients with plexiform NFs and who have symptoms. Yet, high costs of treatment, payment problems, lack of specialists and differences in HTA and regulatory hurdles remain barriers to access. Improving access to innovative therapies through earlier diagnosis, robust rare disease policies, multidisciplinary care and the incorporation of real-world evidence are suggested in the literature.
CONCLUSIONS: While targeted therapies have enhanced the treatment options for patients with NF1, there are still substantial challenges in accessing these therapies. To move science to patient benefits, rare disease policies need to be strengthened, real-world evidence and health technology assessment (HTA) must be integrated into decision-making, and reimbursement pathways must be made more equitable. To ensure equitable access to innovative therapies for patients with NF1, the collective work of policy, healthcare, payers, research and patient advocacy organizations will be essential.