Welcome to the WCN 2021 Interactive Program
The congress will officially run on Central European Time (CET) - Rome Time
To convert the congress times to your local time Click Here
Please note that all sessions will run at their scheduled time and be followed by a LIVE Q&A/Discussion at the end
The viewing of sessions, cannot be accessed from this conference calendar. All sessions are accessible via the Virtual Platform
- Marianne De Visser (Netherlands)
OUTCOME MEASURES IN MUSCLE DISORDERS
- Kristl Claeys (Belgium)
Abstract
Abstract Body
In recent years, significant progress has been made in development of candidate drugs and genetic therapies in distinct muscle disorders. One well-known example is the antisense oligonucleotide (AON) treatment for exon skipping in Duchenne muscular dystrophy. As candidate drugs enter clinical trials, it is critical to understand the natural history of the disease and use available data from natural history studies to evaluate clinical outcome measures for planned efficacy studies. Furthermore, a strong understanding of the natural history of the disease is essential to drug development in orphan muscle diseases, since the numbers of patients available for trials will be limited. For this purpose, we need reliable and reproducible outcome measures through objective biomarkers, either clinical, radiological and/or biochemical, that must be minimally invasive and feasible to use in daily clinical practice. Several clinical outcome measures already exist for many years, such as subjective manual muscle force grading systems (MRC sum score) and walking tests (Six-Minute Walking Distance, 6MWD). Novel disease-specific and reproducible clinical tests have been developed in the last decade, such as the North Star Ambulatory Assessment (NSAA) for Duchenne/Becker Muscular Dystrophy. Patient Reported Outcome Measures (PROMs), such as quality of life questionnaires or the ActivLim scale, have also been introduced and validated in clinical studies. Radiological outcome measures are still being developed and refined, with special focus on quantitative MR imaging. Finally, also biochemical markers of muscle disease progression are finding their way into clinical trials.
OUTCOME MEASURES IN MOTOR NEURON DISEASES AND NEUROPATHIES
- Marianne De Visser (Netherlands)
BIOMARKERS IN RARE NEUROMUSCULAR DISEASES
- Alessandra Ferlini (Italy)
Abstract
Abstract Body
Duchenne muscular dystrophy (DMD) is a severe, X-linked disease, affecting 1:5000 males, and characterized by progressive muscle weakness and muscle mass loss in children. Genetic and biochemical research over the years has led to the characterization of the genetic cause and pathophysiology of the disease. Moreover, the elucidation of genetic mechanisms underlining Duchenne muscular dystrophy has allowed the design of innovative personalized molecular therapies. The identification of specific, accurate, and sensitive biomarkers is becoming crucial for evaluating muscle disease progression and response to therapies, for disease monitoring, and to accelerate drug development and related regulatory processes. Several exploratory biomarkers have been discovered by analyzing DMD patients’ cohorts and provided clues about tissue or fluid proteins and RNA biomarkers (Table 1), as well as allowed the identification of SNPs acting as DMD genetic modifiers (Table 2). Nevertheless, challenges were encountered in translating biomarkers into the clinical context and many bottlenecks still exist, hampering their adoption as surrogate endpoints. These issues could be overcome by national and international collaborative efforts, multicenter data sharing, and by the creation of large cohorts of patients as well as by the application of novel statistical tools, that can be effective also when patient numbers are small. Being DMD a Mendelian disease, building up “biomarker heatmaps” might help making multiple biomarkers applicable to clinical practice and possibly to clinical trials.
