Status: Open to recruitment
Background
Neuroferritinopathy is a disorder caused by a mutation (fault) in a gene, which leads to iron gradually building up in the brain. The build-up of iron eventually leads to the death of brain cells (called neurons), and certain brain regions that help control movement are particularly affected.
There are no treatments known to slow the progression of neuroferritinopathy. Some treatments are available to help with the symptoms of neuroferritinopathy, but these may only be effective for a limited amount of time and have significant side effects.
In this trial, we are testing whether the licensed oral medication deferiprone can reduce the iron build-up in the brain in people with neuroferritinopathy.
Research aims
The main aim of this study is to learn how well the oral study drug (deferiprone) works and how safe the study drug is compared with placebo. A placebo is an inactive material that looks like the study drug but does not have any active study drug.
Who can take part?
- Individuals aged 16 years and over
- Individuals with a confirmed diagnosis of neuroferritinopathy (mutations in the FTL gene)
- Individuals able to undergo an MRI scan
What is involved?
Participants will be required to take part in the study over a period of 14 months.
We will ask participants to:
- Attend Addenbrookes Hospital, Cambridge for 4 visits over a 14 month period
- Receive monthly telephone calls to assess the study drug (deferiprone vs placebo) tolerability
- Have blood samples taken at home, according to the study schedule
- Take oral study medication (deferiprone or placebo) daily
- Complete all study assessments, including medical history, physical examinations, blood samples, clinical assessments, ECG and MRI scans