P.200Feasibility and Baseline Values of Continuous Movement Measurement in Patients with Centronuclear Myopathy by Using ActiMyo®

ActiMyo® is a device developed to evaluate the physical condition of patients suffering with movement disorders. It contains three-axis accelerometer, gyroscope, and magnetometer which allow recording daily life movements of patients in their usual environment using a wearable device. ActiMyo® has been tested as an outcome measure in several trials involving ambulant and non-ambulant patients with neuromuscular disease as Duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA), or facio scapulohumeral dystrophy (FSHD). Recently, the European Medicines agency (EMA) published a qualification opinion on the use of ActiMyo® as a secondary endpoint in trials on DMD. Centronuclear myopathy (CNM) is a rare inherited neuromuscular disorder existing in 3 forms: i) X-linked recessive caused by mutations in the MTM1 gene (OMIM 310400), ii) autosomal dominant caused by mutations in the DNM2 gene (OMIM 160150) and iii) autosomal recessive form due to mutations in the BIN1 gene (OMIM 255200). Phenotype varies from mild to severe. The X-Linked recessive form is the most severe form. Sixteen patients with CNM, enrolled in the European NatHis-CNM study (NCT03351270), have been equipped with an ActiMyo® device. Eight patients were ambulant and carried a mutation in the DNM2 gene except one patient with a mutation in the MTM1 gene. The eight non-ambulant patients carried a mutation in the MTM1 gene. Here we present the first data recorded with ActiMyo®. Data obtained with ActiMyo® should help to objectively measure patient´s motor capacity, and thus serve to analyze and compare the response to emerging treatments.