25 Three years follow-up outcome of deferiprone for pantothenate kinase-associated neurodegeneration (PKAN)

Background The results of our previous one-year-treatment study (Clinicaltrials.gov Identifier: NCT00907283) suggested that deferiprone might be effective in reverse iron deposition and improve neurological manifestations in patients with NBIA. We report the clinical and neuroradiological findings of 3 of 9 pts involved in that study (all with PKAN) that completed 3 year’s treatment. Patients and methods Three patients with genetically confirmed PKAN (2 F; 1 M; age ranging 27–32; disease duration 4–14) received deferiprone solution at 15 mg/kg po bid. All patients underwent brain MRI at baseline and at 12 and 36 months’ follow up. The quantitative assessment of brain iron was performed with T2∗ relaxometry, using a gradient multi-echo T2∗ sequence. UPDRS/III, ICARS, and UDRS were administered at baseline and during follow up. Results The 36-month MRI evaluations showed reduced hypointensity in the globus pallidus (GP) of all the patients; the quantitative assessment confirmed a significant increment in the T2∗ value, and hence a reduction of the iron content in the GP of these patients. Clinical rating scales indicated an improvement in motor symptoms in 2 patients. No evident changes were observed in the other patient, who was the most severely affected. Conclusions The data from our 3-year follow-up study confirm the safety of deferiprone as a chelator agent for iron accumulation. The improvement observed in 2 patients and the clinical stabilization of the third suggests that this drug may be useful in the treatment of those neurological manifestations linked with iron accumulation and neurodegeneration.