A new drug trial is currently underway at Cambridge University aimed at discovering if an existing drug could be repurposed in an effort to reverse the effects of the rare brain condition, neuroferritinopathy. The condition confines people to their bodies and primarily affects descendants from the same family. This trial has inadvertently given hope to a family of four sisters diagnosed with the illness, as there have been no previously known cures for the disease.
Liz Taylor, now aged 59, was left devastated after learning, aged 38, that she was going to lose the ability to move, talk and even eat. She is still able to process thoughts accurately, but communication has been reduced to non-verbal methods only. Medical professionals initially told her that she was suffering from neurological disease with no known cure and that her prognosis was not good. The following years brought more terrible diagnoses for Liz’s three sisters as they too were diagnosed with the same condition, which was eventually identified as neuroferritinopathy caused by the build-up of iron in the brain, leading to a genetic fault that prevents the iron from exiting.
Scientists estimate that there are fewer than 100 patients worldwide diagnosed with neuroferritinopathy, primarily coming from the same family lineage in Cumbria. Often mistaken for Parkinson’s or Huntington’s diseases, it was only after studying patients from Cumbria that researchers discovered that it was a new condition, subsequently named neuroferritinopathy.
Patrick Chinnery, professor of Neurology at Cambridge University, instituted a year-long trial of deferiprone, an established drug that is hoped will be able to “pull out iron from the brain”. Chinnery remained optimistic that if the trial is a success, it could offer “a potential cure” and open new ways of treating other conditions linked to iron build-up in the brain, like Alzheimer’s and Parkinson’s diseases. The trial was approved earlier this year by the Medicines and Healthcare Products Regulatory Agency, which has contributed £750,000 towards the study
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