Professor of Paediatric Neuromuscular Diseases
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.
Hierarchical Bayesian modelling of disease progression to inform clinical trial design in centronuclear myopathy
Fouarge E. et al, (2021), Orphanet Journal of Rare Diseases, 16
The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy
Scaglioni D. et al, (2021), Acta Neuropathologica Communications, 9
Upper limb disease evolution in exon 53 skipping eligible patients with Duchenne muscular dystrophy.
Lilien C. et al, (2021), Ann Clin Transl Neurol
Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls.
Darras BT. et al, (2021), N Engl J Med, 385, 427 - 435
Therapies in preclinical and clinical development for Angelman syndrome.
Markati T. et al, (2021), Expert Opin Investig Drugs