The year 2019 was marked by events, appointments and new projects demonstrating the Institute of Myology’s dynamism and the commitment of its teams to a common ambition, the interests of the patient, myology and its advances.
01 / STRATEGIC PLAN AND MYOLOGY FOUNDATION PROJECT
The development of the 2019–2024 strategic plan helped to provide a roadmap consisting of strategic objectives and priorities in the run-up to the 2024 Paris Olympic Games. The project involving the creation of the Foundation is now, more than ever, inspired by this vision, with a national and international dimension, taking into account the recommendations of the Scientific Advisory Board (SAB) experts, in conjunction with the strategic objectives. To speed up the achievement of this ambition, a new building will be constructed, allowing all the experts to be gathered in one place and their numbers to be increased.
02 / MYOLOGY CENTRE FOR RESEARCH
> Assessment by an international jury appointed by the HCERES (French High Council for the Evaluation of Research and Higher Education), in 2018, of the Research Centre facilitated the creation of a joint research unit, by INSERM and Sorbonne University, for the 2019–2023 period.
> In 2019, myology experts from around the world, who formed the international SAB, assessed the activities of the Institute of Myology in its entirety. This scientific committee recognised the quality and excellence of the work performed by the teams. A strong recommendation was made, to gather these teams into a single building.
03 / CLINICAL TRIALS
> In 2019, the Paediatric I-Motion Institute treated 110 patients, who were included in 16 clinical research protocols (including two gene therapy studies) and three prospective studies. These protocols concern Duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA), and myotubular and centronuclear myopathies.
> A new Adult I-Motion clinical trial platform was established in September 2019 at the Institute of Myology to help manage clinical trials in adult patients with neuromuscular disease. Since January 2020, three studies have been set up: one natural history study and two therapeutic trials. These studies, either active or in the process of being set up, target several neuromuscular diseases including spinal muscular atrophy, myasthenia, the autoimmune myopathies and amyotrophic lateral sclerosis (ALS). The platform is also conducting several retrospective studies to enhance the data already acquired over the years, in adults with a variety of neuromuscular diseases.
04 / RESEARCH CENTRES
In 2019, Myobank-AFM collected biological resources and fluids from children and adults treated with nusinersen, a new therapy for spinal muscular atrophy. This will help to develop new research projects, conducted notably by the Institute’s Myology Research Centre.
> NEUROMUSCULAR PHYSIOLOGY AND EVALUATION LABORATORY
Several major projects were conducted in 2019 by the laboratory:
- RESPIMYO: Continuation of the Respimyo project, which was set up in 2018 with the help of financial support from the EDF Foundation.
• Conduct of a study on the use of shear wave ultrasound to assess diaphragm dysfunction in ventilated resuscitation patients.
• Validation of the use of ultra-fast ultrasound to assess diaphragm contractility in response to artificial stimulation in healthy subjects.
• Filing of a patent for a method to assess regional segment lean muscle volume. This portable and accessible approach will help to assess regional muscle volume and changes thereto, in a variety of physiological and pathophysiological contexts.
• Validation of a new MyoTool, allowing easier measurement of quadriceps strength (MyoQuad)
05 / CLINICAL CARE: CREATION OF THE DEPARTMENT OF NEUROMYOLOGY
A restructuring of the AP-HP (the Paris public hospital system) in 2019 led to the creation of new clinical teaching departments. It was in this context that the Service of Neuro-Myology was created within the Neurosciences Clinical Teaching Department in July 2019. It is based on the merging of two entities of the North/East/Ile-de-France Neuromuscular Diseases Reference Centre: the Neuromuscular Diseases Reference Centre, coordinated by Dr Tanya Stojkovic, and the Channelopathies Reference Centre, coordinated by Prof. Bertrand Fontaine. This transition from a consultation attached to the Service of Neurology, to a Service of Neuro-Myology in its own right, with its own budget and management autonomy, is a significant step in the recognition of myology, a major objective of the Institute’s strategic plan. For patients, this will result in an improvement in the safety of care, and therefore in the quality of care, access to innovation, and inclusion in therapeutic trials, which will be conducted by the dedicated Adult I-Motion platform being created at the same time.
07 / APPOINTMENTS
> Appointment of Prof. Bertrand Fontaine as Head of the Myology Centre for Research, to replace Gillian Butler-Browne, PhD.
> Appointment of Prof. Bertrand Fontaine as Head of the Service of Neuro-Myology.
> Appointment of Dr Giorgia Quérin as Coordinating Physician for the new Adult I-Motion clinical trial platform.
> Appointment of Harmen Reyngoudt, PhD and Benjamin Marty, PhD as Heads of the Nuclear Magnetic Resonance (NMR) Imaging and Spectroscopy Laboratory