Open Access Letter to the Editor

An international registry for neurodegeneration with brain iron accumulation

Bernadette Kalman1, Ronald Lautenschlaeger2, Florian Kohlmayer2, Boriana Büchner1, Thomas Kmiec3, Thomas Klopstock1*† and Klaus A Kuhn2†

Author Affiliations

1 Friedrich-Baur-Institut, Dept. of Neurology, Ludwig-Maximilians-University Munich, Ziemssenstraße 1a, Munich, 80336, Germany

2 Institut für Medizinische Statistik und Epidemiologie, Klinikum Rechts der Isar der Technischen Universitaet, Ismaninger Str. 22, Munich, 81675, Germany

3 Instytut Pomnik Centrum Zdrowia Dziecka, Klinika Neurologii I Epileptologii, Aleja Dzieci Polskich 20, Warszawa, 04-730, Poland

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Orphanet Journal of Rare Diseases 2012, 7:66 doi:10.1186/1750-1172-7-66

Published: 17 September 2012

Abstract

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.

Keywords:
Rare diseases; Neurodegeneration; Iron; Registry; Consortium; NBIA; TIRCON