Hopes rare genetic brain condition may finally be treatable.
Neuroferritinopathy originated in Cumbria
Scientists are hoping to repurpose an existing drug to treat an ultra-rare genetic disorder that originates in Cumbura.
Neuroferritinopathy is a progressive and incurable brain condition, whose symptoms include loss of speech and swallowing.
It was discovered more than 20 years ago, when a British scientist began studying a family in Cumbria who thought they had an inherited risk of either Parkinson's or Huntington's disease.
It is thought to affect about 100 people worldwide.
The study, led by the University of Cambridge, will use existing drug deferiprone on 40 patients who will take the medicine for a year to see if it has affect on reducing symptoms.
It's being been funded by LifeArc, a self-funded, non-profit medical research organisation.
The trial received approval to proceed from the UK MHRA last month.
Samantha Denison, a patient hoping to participate in the trial, said:
“It came as such a surprise to be informed of the trial and to learn that we have not been forgotten about. To have the chance to be involved in the trial gives me such hope. If it can help to slow or stop the condition progressing, that would be a huge relief. Just to know that by taking part we could also be helping future generations, is amazing.”
Patrick Chinnery, Trial Lead and Professor of Neurology at the University of Cambridge, Head of the Department of Clinical Neurosciences and Honorary Consultant Neurologist at Cambridge University Hospitals NHS Trust, commented:
“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.
"By funding this study, LifeArc has given the first hope of a treatment for affected families. If successful, the trial will open the possibility of using a similar approach for other neurodegenerative conditions linked to the build-up of iron in the brain, including Parkinson’s disease.”