Neurodegeneration with brain iron accumulation (NBIA) is a clinically and genetically heterogeneous group of rare hereditary neurodegenerative disorders characterized by high levels of brain iron. Many NBIA cases are characterized by early childhood onset and rapid progression to disability and death. The most frequent form of NBIA is Pantothenatekinase- associated neurodegeneration (PKAN). Currently, there is no proven therapy to halt or reverse PKAN or any other form of NBIA. This is especially unfortunate as both the iron accumulation in NBIA and the biochemical defect in PKAN are predicted to be amenable to drug-based treatment. Thus, the absence of adequately powered randomized clinical trials is not due to a lack of therapeutic options but to the rarity of the disease, the lack of patient registries and the fragmentation of therapeutic research worldwide.
In TIRCON, for the first time, an international group of scientists and clinicians have elaborated a collaborative project with patient representatives and innovative companies committed to orphan products.
TIRCON’s goals are: