Neurofibromatosis type 1 (NF-1) is a common genetic condition which can cause a number of medical issues. Around 15% of children with NF-1 will develop low grade tumours involving the optic nerves or pathways (OPG). Sometimes these tumours need no treatment but in many cases they can affect the vision and require treatment. Up until now the most commonly used treatments have been chemotherapy agents which are reasonably effective for many children but do not improve vision much for many or do not work for some. Plexiform neurofibromas are benign tumours which are also common in children and adults with NF-1. Often they do not need treatment as they do not cause problems, and surgery can often be used if they require treatment. Tumours growing near or around important structures can be difficult to remove safely and can cause pain, functional impairment or even pose a risk to life. Medical treatments to date have not been effective in reducing the size of these tumours.
When associated with NF-1 both of these tumours rely on an overactive biological pathway called the MAPK pathway. Recently pathway blockers called MEK inhibitors have been developed which show promise for NF-1 associated tumours. This study aims to further analyse their effectiveness and safety in a population of patients with NF-1 associated tumours not amenable to standard therapy. It has the added objective of assessing whether there may be benefits to patients in neurocognitive domains which may also be impaired by the overactivity of this pathway.
Patient Age Range: 3 months – 25 years
Trial Sponsor: ANZCHOG