Professor of Paediatric Neuromuscular Diseases, Academic Director of the new Paediatric CRF
I am Professor of Paediatric Neuromuscular Diseases at the MDUK Oxford Neuromuscular Centre and Invited Professor of Child Neurology at Liège University.
After graduating from Louvain Medical School, Brussels, Belgium in 1999, I completed a PhD in Neuroscience (cerebellar electrophysiology in alert living mice) from Free University of Brussels, Belgium, followed by residencies in child neurology at the Free University of Brussels and Robert Debré Hospital, Paris. In 2008, I took a position in neuromuscular disease and clinical research at the Institute of Myology in Paris, where my interest and expertise in neuromuscular diseases flourished. I was subsequently appointed Head of Clinical Trials and Database Services. Most recently, I served as Head of the Institute of Myology’s I-Motion (Institute Of Muscle-Oriented Translational Innovation), and Head of the Neuromuscular Centre in Liège, Belgium. I have joined MD UK Oxford Neuromuscular Center and the University of Oxford in September 2019.
I have been involved as principal investigator in numerous clinical trials to test treatments for Duchenne muscular dystrophy and spinal muscular atrophy (SMA).
I am the leader of the newborn screening program for SMA in southern Belgium where we are conducting a medico-economic analysis of newborn screening. My main research expertise covers the development of innovative outcome measures, including connected devices for real-life patients’ evaluation.
Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification.
Proud CM. et al, (2023), Ann Clin Transl Neurol
Newborn screening for spinal muscular atrophy - what have we learned?
De Siqueira Carvalho AA. et al, (2023), Expert Rev Neurother, 1 - 8
The use of digital outcome measures in clinical trials in rare neurological diseases: a systematic literature review.
Poleur M. et al, (2023), Orphanet J Rare Dis, 18
Universal newborn screening for spinal muscular atrophy in Ukraine.
Olkhovych N. et al, (2023), Lancet, 402, 288 - 289
Spinal Muscular Atrophy Treatment in Patients Identified by Newborn Screening-A Systematic Review.
Aragon-Gawinska K. et al, (2023), Genes (Basel), 14