New research results on Friedreich's ataxia published

 

In 2010, the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) joined forces to study the course of Friedreich's ataxia. Friedreich's ataxia is a rare autosomal recessive disorder. Clinically, it leads to uncoordinated movements (ataxia), postural and gait disorders, balance and visual disturbances, but also to heart muscle diseases, diabetes and scoliosis. Those affected are cared for at the RWTH Aachen University Hospital in the Centre for Rare Diseases Aachen (ZSEA). For the third time, the consortium with the participation of the Department of Neurology at RWTH Aachen University Hospital has published its research results in The Lancet Neurology in March 2021. The publication shows progression data of Friedreich's ataxia over four years. The article is groundbreaking for research into the neurodegenerative, as yet incurable disease. Little is known about the natural course of the disease. The aim of the EFACTS research network is therefore to better understand the characteristics and course of Friedreich's ataxia. The basis of the long-term study is a patient registry in which data from eleven clinical centres in seven European countries are pooled. The register and the study are headed by Prof. Dr. med. Jörg B. Schulz, spokesperson of the ZSEA and Director of the Department of Neurology at the RWTH Aachen University Hospital. Together with Prof. Dr. Kathrin Reetz, Managing Senior Physician of the Department of Neurology, Dr. Imis Dogan, Psychologist in Neurology, Prof. Dr. Ralf-Dieter Hilgers, Director of the Institute for Medical Statistics, and the EFACTS team of RWTH Aachen University Hospital, the EFACTS consortium prospectively analysed 4-year cross-sectional data of 602 patients with Friedreich's ataxia. The research group was able to show which characteristics are associated with the progression of the disease.

Reetz K, Dogan I, Hilgers RD, Giunti P, Parkinson MH, Mariotti C, Nanetti L, Durr A, Ewenczyk C, Boesch S, Nachbauer W, Klopstock T, Stendel C, Rodríguez de Rivera Garrido FJ, Rummey C, Schöls L, Hayer SN, Klockgether T, Giordano I, Didszun C, Rai M, Pandolfo M, Schulz JB; EFACTS study group.Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study. Lancet Neurol . 2021 May;20(5):362-372.