What is NBIA?
Neurodegeneration with brain iron accumulation (NBIA) is a clinically and genetically heterogeneous group of rare neurodegenerative disorders characterized by high levels of brain iron. The most common form is pantothenate kinase-associated neurodegeneration (PKAN), caused by mutations of the PANK2 gene (Zhou et al, 2001). The classic symptoms of PKAN and other NBIA disorders are early childhood onset and rapid progression to disability and death. There is currently no proven therapy to halt or reverse this disease. For more information about NBIA subtypes, please click here.
Mechanisms of Action
All forms of NBIA, in spite of their heterogeneous genetics and biochemistry, lead to brain iron accumulation, most prominently in the globus pallidus. This may appear as an „eye of the tiger“ iron accumulation pattern in the brain.
How deferiprone works
Iron-chelating agents have been administered since the 1970s as a possible treatment of NBIA. However these past studies have been inconclusive because early trials were limited by systemic iron deficiency before any benefit might have been realized. Deferiprone, produced by ApoPharma Inc., Canada, is an iron-chelating agent used to reduce systemic iron overload. It has been shown to cross the blood brain barrier, and reduce brain iron and regress symptoms in isolated cases of NBIA (Zorzi et al, 2011). Several other small scale treatments of NBIA patients with deferiprone have shown clinical improvements as well.