Overview

Neuroferritinopathy currently has no effective treatments and affects around 100 individuals worldwide. The DefINe trial aims to stop the disease’s progression by reducing brain iron accumulation using deferiprone, an existing oral medication approved for blood disorders like thalassemia. 

About the DefINe trial

Led by Professor Patrick Chinnery at the University of Cambridge, this placebo-controlled trial involves 40 patients taking deferiprone or a placebo for a year. The study will use advanced 7T magnetic resonance imaging (MRI) to monitor iron levels in the brain. Data from the trial will support an application for licensing deferiprone for neuroferritinopathy under ‘exceptional circumstances,’ accelerating its availability to patients if proven successful. 

We have contributed £750,000 to this pioneering effort, and Lipomed, a Swiss life sciences company, has provided a cost-effective form of deferiprone and placebo tablets worth £250,000. Together, these efforts aim to offer the first hope of treatment for this devastating condition. 

About neuroferritinopathy

Neuroferritinopathy is a rare genetic brain disorder caused by mutations in the gene responsible for producing ferritin light chain protein, resulting in iron build-up in the brain. Symptoms, which typically begin in middle age, include severe motor and speech difficulties, ultimately leading to the loss of essential functions like swallowing. 

Despite its rarity, the disorder profoundly impacts patients and families, with no current treatments to halt its progression. 

Impact of the DefINe trial

If successful, the DefINe trial will provide the first-ever treatment for neuroferritinopathy, offering hope to affected patients and families. Beyond this disease, the findings could pave the way for deferiprone’s use in other neurodegenerative conditions linked to brain iron accumulation, such as Parkinson’s disease. 

This trial exemplifies the potential of drug repurposing to provide rapid, cost-effective solutions for rare diseases.