Acknowledgments: this is a not-for-profit study. We thank Jane Tricker and Silvia Caviglia for editorial assistance in the preparation of this article. We are also grateful to Alessandra Rosa for assistance with the statistical analysis. This trial was partially supported by E.O. Ospedali Galliera Scientific Committee and Fondazione CARIGE. Manuscript received on February 24, 2011. Revised version arrived on June 30, 2011. Manuscript accepted on July 4, 2011. Email: gianluca.forni@galliera.it Deferiprone was shown to reverse iron deposition in Friedreich's ataxia. This multi-center, unblinded, single-arm pilot study evaluated safety and efficacy of deferiprone for reducing cerebral iron accumulation in neurodegeneration with brain iron accumulation. Four patients with genetically-confirmed pantothenate kinase-associated neurodegeneration, and 2 with parkinsonism and focal dystonia, but inconclusive genetic tests, received 15 mg/kg deferiprone bid. Magnetic resonance imaging and neurological examinations were conducted at baseline, six and 12 months. Chelation treatment caused no apparent hematologic or neurological side effects. Magnetic resonance imaging revealed decreased iron accumulation in the globus pallidus of 2 patients (one with pantothenate kinase-associated neurodegeneration). Clinical rating scales and blinded video rating evaluations documented mild-to-moderate motor improvement in 3 patients (2 with pantothenate kinaseassociated neurodegeneration). These results underline the safety and tolerability of deferiprone, and suggest that chelating treatment might be effective in improving neurological manifestations associated with iron accumulation. Haematologica 2011;96(11):1708-1711. doi:10.3324/haematol.2011 This is an open-access paper.
ABSTRACTly, agranulocytosis), currently represents the only possibility for removing and/or preventing iron accumulation in the brain. This was a multi-center, unblinded, single-arm pilot study, lasting one year, to evaluate the efficacy and safety of chelation therapy with deferiprone on cerebral iron accumulation in patients with a clinical diagnosis of NBIA.
4
Design and Methods
PatientsInclusion criteria were: patients over 18 years of age with neurological symptoms correlated with iron deposition in the basal ganglia as documented by MRI (T2* and T2 signal decrease in the basal ganglia), performed within six months of enrolment. Exclusion criteria were: inability to undergo MRI; renal insufficiency (creatinine >1.5 mg/dL); neoplasias, systemic cardiovascular, severe renal and hepatic diseases; known hypersensitivity to deferiprone; pregnancy and breastfeeding. Additional exclusion criteria were average alanine transaminase (ALT) levels over 300, variations in ALT or aspartate transaminase (AST) levels of 300% during the year prior to enrolment, and patients judged potentially unreliable and/or uncooperative with regard to study procedures.The trial was approved by the E.O. Ospedali Galliera Ethics Committee and the local Ethics Committee at the Cagliari cent...
We report the results of iron chelating treatment with deferiprone in a 61-year-old woman with signs and symptoms of neurodegeneration with brain iron accumulation (NBIA). After 6 months of therapy the patient's gait had improved and a reduction in the incidence of choreic dyskinesias was observed. Her gait returned to normal after an additional 2 months of therapy, at which time there was a further reduction in involuntary movements and a partial resolution of the blepharospasm.
This article provides an overview of the current use of diagnostic imaging modalities in the evaluation of a heterogeneous group of disorders causing chronic anemias by impaired blood cell production (inherited bone marrow failure syndromes of childhood, aplastic anemia and myelodysplastic syndromes, β-thalassemia) or increased blood cell destruction (sickle cell disease). During the course of these disorders, various musculoskeletal abnormalities can be encountered, including marrow hyperplasia, reversion of yellow marrow to red marrow, growth disturbances, and, occasionally, extramedullary hematopoiesis. Diagnostic imaging may help the clinician to identify specific complications related to either the disease (e.g., bone infarction and acute osteomyelitis in sickle cell disease) or transfusion (e.g., iron overload due to increased hemolysis) and iron chelation (e.g., desferrioxamine-related dysplastic bone changes and deferiprone-related degenerative arthritis) treatments. In this field, magnetic resonance imaging plays a pivotal role because of its high tissue contrast that enables early assessment of bone marrow changes before they become apparent on plain films or computed tomography or metabolic changes occur on bone scintigraphy or positron emission tomography scan. Overall, familiarity with the range of radiological appearances in chronic anemias is important to diagnose complications and establish appropriate therapy.
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