Trailblazing Madisen leads the way in new clinical trial offering hope for children with neurofibromatosis

A six year old Perth girl, Madisen Sotirovska, has become the first patient in Australia and New Zealand to be enrolled in a new clinical trial offering hope to children diagnosed with neurofibromatosis. 

Perth Children’s Hospital (PCH) Oncology Department is one of several hospitals across Australia and NZ taking part in the TiNT MEK Inhibitor clinical trial that aims to reduce tumour growth caused by neurofibromatosis type 1 (NF1).

Neurofibromatosis is a genetic disorder that causes several medical conditions including tumour growth, both benign and cancerous, along the nerves in any part of the body. 

Madisen’s mum, Angela said neurofibromatosis was a difficult condition to live with because of the uncertainly around when tumours might grow and how they might impact on her daughter.
 
“Madisen currently has tumours growing on her thigh and one on the joints outside of her spine which is causing significant pain together with weakness in her left leg,” Mrs Sotirovska said.

PCH Oncologist Dr Tom Walwyn said the drug being studied in this trial (Trametinib) has been successfully used to treat melanoma and other cancers in adults but is also specifically aimed at the genetic mutation in NF1 that contributes to tumour growth.

“This study aims to gain a better appreciation of the effect of Trametinib on the size of these tumours in children like Madisen, but also study how changes in the tumours affect their quality of life,” Dr Walwyn said. 

Mrs Sotirovska said while there is immense stress and anxiety that comes with this condition, they were pleased to be part of this trial. 

“Knowing we are contributing to a potential treatment through this trial gives us hope for the future,” Mrs Sotirovska said. 

More info about the trial is available here.