Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON) – an integrated strategy under FP7 to improve research, treatment, and care in neurodegeneration with brain iron accumulation

Aims: 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 pantothenate kinase-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.

Methods: In TIRCON (Treat Iron-Related Childhood-Onset Neurodegeneration), 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 (1) to set up an international NBIA registry and (2) a biobank, (3) the development of biomarkers for the disease, (4) the conduction of a randomized clinical trial of the iron-chelating drug deferiprone in PKAN, and (5) the preclinical development of pantethine derivatives for the treatment of PKAN.

Results: All required approvals have been obtained. The project has been approved by the local ethics committees. The registry and the biobank are established.

Conclusion: The project aims to assess clinical and diagnostic data and to establish a platform for clinical studies of NBIA patients.