Neuroferritinopathy: 'Our aim is to stop the disease in its tracks'

  • 21 March 2024

Neuroferritinopathy is a rare brain condition that traps people in their bodies and seems to largely affect descendants of one family. The University of Cambridge, led by Gonville & Caius College Fellow Professor Patrick Chinnery, is launching a drugs trial in a hope of reversing its effects.

Nearly 25 years since the condition was recognised, Neurology Professor Patrick Chinnery from the University of Cambridge is about to start a year-long trial of an existing drug, deferiprone, which he hopes will be able to "pull out the iron from the brain" and halt the disease in its tracks.

"Scans show where the iron is collecting in the brain, and in people who've inherited this genetic change it's really marked," Prof Chinnery says, adding: "It can take 40 years before people start to get symptoms."

After patients have had symptoms for 10 years, the excess iron is "clearly causing damage to the brain itself and the supporting tissue has been destroyed", Prof Chinnery explains.

"Our primary aim is to stop the disease in its tracks, and it might lead to some reversing of the problems."

This is an extract from the BBC website; the BBC spoke to the family of four sisters diagnosed with the disease. Read the full story on the BBC website.

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