"Samantha Denison, 58, has neuroferritinopathy, a rare disease that mainly affects a small number of families with roots in Cumbria. She is taking part in a trial to see if an existing drug, deferiprone, can remove the build-up of iron in the brain which causes the disease."

Read more about Samantha's story and the DefINe clinical trial on the BBC news pages

More about the clinical trial:

The DefINe clinical trial looks at repurposing the UK-licensed medicine deferiprone for patients with the ultra-rare genetic disease neuroferritinopathy.

Neuroferritinopathy is a progressive and incurable brain disorder caused by changes in a gene that produces a specific protein - ferritin light chain protein. This change leads to the build-up of iron in the brain. The disease usually appears in middle-aged adults and causes severe symptoms that impact on day-to-day life, eventually resulting in the loss of speech and swallowing. There are currently no effective treatments.

Funded by LifeArc, the randomised placebo-controlled trial - DefINe - is led by Professor Patrick Chinnery from the Department of Clinical Neurosciences. It aims to stop the progression of the disease by reducing the iron accumulation in the brain with an existing drug called deferiprone. Deferiprone is an affordable oral tablet that is already licensed for use in the UK to reduce iron levels in blood conditions like thalassemia. If successful, the trial could also open the possibility of deferiprone being used for other neurodegenerative conditions linked with build-up of iron the brain.

Professor Chinnery said: “Neuroferritinopathy leads to severe disability and currently has no cure. The DefINe trial will show whether we can stop the disease in its tracks by pulling iron out of the brain using a well-known medicine called deferiprone."