Neurology working group (Léna Szabó MD, PhD, Zoltán Liptai MD, PhD, Dobner Sarolta MD)

ActiLiege Next Study: Multicenter clinical study organized by the Centre de RéférenceLiégeois des Maladies Neuromusculaires (CRMN). The goal of the Actiliège-next study is to gather more natural history data in Duchenne muscular Dystrophy (ambulant and non-ambulant patients), and in patients with Facio-Scapulo-Humeral Dystrophy, a disease in which outcomes are currently lacking. It consists of obtaining longitudinal data for the patients, as well as normative data for the control subjects, with particular emphasis on paediatric subjects using new medical devices (Actimyo, MyoPinch, MyoGrip).Actimyo is a specific wearable device designed for neuromuscular patients.The purpose of this actimetry tool is to characterize the activity of ambulant and non-ambulant patients with neuromuscular diseases, through the use of magneto-inertial technology. The validation of new follow-up measures is a priority for the purposes of the development of new therapeutic strategies.

Determination the prevalence of Aromatic L-amino acid decarboxylase (AADC) deficiency in a population of patients with cerebral palsy (CP) or epilepsy: The similarity in symptoms of CP, some type of epilepsies and AADC deficiency raises the possibility that some patients carrying a diagnosis of CP or epilepsy may have AADC deficiency. The goal of this study is to identify patients with AADC deficiency from a population of patients regarded as cerebral palsy or epilepsy to giving greater insight to the prevalence, the demographics and clinical characteristics of AADC deficiency and giving the possibility to the family for genetic counselling regarding the risk of the disease in future siblings.

Spinraza non responder project:Multicentre clinical study organised by Centre de Référence Liégeois des Maladies Neuromusculaires.The aim of this study is to show that the outcomes used in clinical follow-up to measure treatment efficacy in patients with SMA type I, II and III are not well adapted to the real-world population, as these scales are not able to capture meaningful improvements by using a quality-of-life questionnaire to represent patients’ perspectives(or for younger patients, those of their caregivers). Ultimately, this project may potentially force us to reconsider our methods of building treatment follow-ups and registers.Over the last several years the treatment options available for spinal muscular atrophy (SMA) have dramatically increased. In order to permit an accurate functional follow-up of patients treated with market-approved drugs, the same outcomes used in clinical trials on a targeted and homogenous population must also be used in clinic.However, the choice of outcomes should depend on whether a patient is included in a clinical trial, where the population is homogeneous as the aim is to show global treatment efficacy; or needs a functional follow-up in care, where the population is highly heterogeneous and the aim is to show individual disease progression.

Our working group has special interest in rare neuromuscular diseases, viral or immune mediated encephalitis and childhood central nervous system vasculitis (CNS). There a studies in preparation about clinical biomarkers correlating the prevalence of late NMDA encephalitis in herpes encephalitis and about the demographics, clinical andetiological features and outcome of childhood CNS vasculitis.