A pilot trial of deferiprone for neurodegeneration with brain iron accumulation

Area of Science:

• Neuroscience
• Pharmacology
• Medical Imaging

Background:

• Neurodegeneration with brain iron accumulation (NBIA) is a group of rare, inherited neurological disorders characterized by progressive neurodegeneration and abnormal iron accumulation in the brain.
• Iron chelation therapy is a potential therapeutic strategy for NBIA, aiming to reduce iron overload and mitigate associated neurological damage.

Purpose of the Study:

• To evaluate the safety and efficacy of deferiprone, an orally active iron chelator, in reducing cerebral iron accumulation in patients with NBIA.
• To assess the impact of deferiprone treatment on neurological manifestations and motor function in patients with NBIA.

Main Methods:

• A multi-center, unblinded, single-arm pilot study involving six patients with genetically confirmed or suspected NBIA.
• Patients received deferiprone at 15 mg/kg twice daily for 12 months.
• Safety assessments included hematologic and neurological monitoring. Efficacy was evaluated using magnetic resonance imaging (MRI) to assess brain iron deposition and standardized neurological examinations and rating scales.

Main Results:

• Deferiprone treatment was well-tolerated, with no significant hematologic or neurological side effects reported.
• MRI demonstrated a reduction in globus pallidus iron accumulation in two patients.
• Three patients showed mild-to-moderate improvements in motor function, as assessed by clinical rating scales and blinded video evaluations.

Conclusions:

• Deferiprone is a safe and tolerable treatment option for patients with NBIA.
• The study suggests that deferiprone may be effective in reducing brain iron burden and improving neurological symptoms in NBIA, warranting further investigation in larger clinical trials.