Neuroferritinopathy Nervous System Diseases
Conditions
Interventions
DefINe is a randomised, double-blind, placebo-controlled trial which aims to test the use of deferiprone in people with neuroferritinopathy. We are aiming to recruit 40 participants overall. Participa
Sponsors
Cambridge Clinical Trials Unit
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Be aged 16 years and over, of any sex and gender 2. Be willing and able to provide written informed consent 3. Have a genetic diagnosis of neuroferritinopathy (mutations in FTL gene) 4. Have symptomatic neuroferritinopathy 5. Be able to undergo MRI brain imaging 6. Agree to use contraception if required 7. Be able (in the Investigator’s opinion) and willing to comply with all trial requirements
Exclusion criteria
Exclusion criteria: 1. Conditions or use of medicines known to contraindicate the use of deferiprone (e.g. history of agranulocytosis or recurrent episodes of neutropenia) or known hypersensitivity to deferiprone or any of its excipients 2. Neutropenia (absolute neutrophil count [ANC] < 1.0 x 10^9/L) at the screening visit 3. Unable or unwilling to undergo the required blood testing 4. Inability to take or swallow oral medication 5. Pregnant, breastfeeding or planning to become pregnant during the trial 6. Received an investigational drug (including investigational vaccines) or used an invasive investigational medical device within 30 days before the screening assessment, or currently enrolled in an interventional investigational trial 7. Currently taking any other iron chelator(s), or taken any other iron chelator(s) within three weeks of the screening visit 8. Currently taking medicines that are known to cause agranulocytosis or are associated with neutropenia 9. Previous treatment with deferiprone with a serious adverse reaction (SAR) requiring withdrawal of deferiprone 10. Patients who, in the opinion of the Investigator, represent a high medical or psychological risk 11. Active drug or alcohol use or dependence that, in the opinion of the Investigator, would interfere with adherence to trial requirements 12. Movement disorder preventing brain imaging 13. Any other condition which, in the opinion of the Investigator, makes the patient inappropriate for entry into the trial
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Change in the mean T2* relaxation rate in the thalamus measured by 7T MRI between baseline and month 12. | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. The number of AEs or withdrawals that are attributable to deferiprone from baseline (day 0) to end of trial visit (month 13) 2. The change in the mean T2* relaxation rate in the thalamus measured by 7T MRI between baseline and month 6 3. The regional brain structural change, measured using voxel-based morphometry, between baseline and month 12 4. The change in dystonia and chorea rating scales (using BADS, UDRS, and UHDRS) between baseline and month 12 5. The change in quality of life measures (using SF-36) between baseline and month 12 | — |
Countries
United Kingdom
Outcome results
None listed