Kalman, Bernadette; Lautenschlaeger, Ronald; Kohlmayer, Florian; Buechner, Boriana; Kmiec, Thomas; Klopstock, Thomas; Kuhn, Klaus A.:
An international registry for neurodegeneration with brain iron accumulation.
In: Orphanet Journal of Rare Diseases
We report the development of an international registry for Neurodegeneration with Brain Iron Accumulation (NBIA), in the context of TIRCON (Treat Iron-Related Childhood-Onset Neurodegeneration), an EU-FP7-funded project. This registry aims to combine scattered resources, integrate clinical and scientific knowledge, and generate a rich source for future research studies. This paper describes the content, architecture and future utility of the registry with the intent to capture as many NBIA patients as possible and to offer comprehensive information to the international scientific community.