WMS 2021 Congress

Agenda

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14:30

Debate 1 - Pre-clinical research – Are large animal models necessary in translational research?

New this year at the WMS are the stimulating debates to discuss controversial topics. In this session we will discuss whether large animal models are needed to study pathology in and develop therapies for neuromuscular diseases. A plethora of disease animal models have been established for muscle diseases, ranging from worms, flies, and fish, to mice, rats, cats, dogs and pigs. For larger animal models, generally the ‘pet-ability factor’ is higher and the acceptance for using these model systems for translational research is low with the general public. In this debate we will discuss whether large animal models are needed for neuromuscular disease research or whether smaller animal models suffice.

Caroline Le Guinier, aka “Doguiner”, is no Mickey Mouse expert. She has been working like a dog in gene therapy development and she has always said that if some researchers have gone to the dogs, it is because of rat finks that do not consider large animal models in pre-clinical developments for diseases that makes children sick as dogs! She knows and will defend the place of large animal models in neuromuscular disease research and therapy development and will argue against small animal models that she calls “dogs with two tails”. Knowing her opponent -Anne-Mice- who bites as well as she barks, she smells rats, but she is moving ahead for this dog-eat-dog debate.

Annemieke aka “Anne-Mice” Aartsma-Rus is not poor as a church mouse, but as a self-proclaimed mouse-doctor, she used to say that there is nothing like a free-lunch, especially if it comes in a doggy bag.  Smaller and cheaper models provide the neuromuscular researcher with all the tools they need to study disease pathology and develop therapies. By understanding the different models, and asking the right questions to each, one can conduct all the experiments needed to properly design clinical trials, and rat pack nice papers. The larger animal models have no added value. She knows how smart Doguiner is, and before accepting this debate, she told herself “Rats! Are you a woman, or a mouse?” She decided to move ahead!

Note that the debaters will endorse extreme positions that do not reflect their personal views for the sake of having a good debate. It is not going to be a game of cat and mouse, but a real rat race!

  • Prof. Alan H. Beggs (Moderator)
    Boston Children's Hospital & Harvard Medical School

  • Dr Vandana Gupta (Moderator)
    Great Ormond Street Institute of Child Health

  • Dr Caroline Le Guiner (Debate Speaker)
    Gene Therapy Laboratory of Nantes

  • Dr Annemieke Aartsma-Rus (Debate Speaker)
    Leiden University Medical Center

Ends at 15:30

16:00

Debate 2 – (Wo)Man or machine? Who should evaluate patients in clinical trials?

Once upon a time in the WestMS, a new idea emerged: to discuss controversial topics in the form of stimulating debates. Here we tackle the subject of who should evaluate patients in clinical trials: a human being or a machine, a smart and skilled physiotherapist, or a precise and objective device? As everyone knows, it’s not all fun and games in the world of clinical trials. The tyranny of achieving the primary efficacy endpoint, strict functional inclusion criteria, and of the little “p” put huge stress on researchers to judiciously choose the proper outcome measure to validate a drug and put it on the market.

Ladies first. Lindsay will defend the role of the human. Everyone knows and supports that humans are best suited to complete evaluations for clinical trials as they have the knowledge and expertise required to capture consistently valid outcomes across a study. Physiotherapists have unrivalled skills and clinical expertise and the ability to establish relationships with patients. Our humanity is what keeps patients enrolling and remaining in clinical trials, while ensuring quality data for interpretation of trial results. No emotionless, programmed (by humans!) machine could ever be expected to achieve the level of skill of a human.

Laurent will explain that physiotherapists are much too important for patients to conduct scales repetitively, and that innovative technologies may help to get much more objective, precise, granular and reliable data. In the brave new world we are living in, home-based assessments will become a must and will provide continuous measures that are much less sensitive to fatigue, motivation or intercurrent conditions.

Note that the debaters will endorse extreme positions that do not reflect their personal views. You will know more by following this debate. Be patient and stay tuned. 16+. Explicit content.

  • Dr. Jean-Yves Hogrel (Moderator)
    Institut de Myologie

  • Dr Damien Bachasson (Moderator)
    Institute of Myology, Paris

  • Dr. Lindsay Alfano (Debate Speaker)
    The Abigail Wexner Research Institute at Nationwide Children

  • Dr. Laurent Servais (Debate Speaker)
    John Radcliffe Hospital

Ends at 17:00

17:30

Debate 3 – Should neuromuscular diseases be reduced through pre-conception carrier testing?

Most neuromuscular disorders are progressive, disabling and life-limiting diseases that have major impacts on the life of affected individuals and their families. In addition to the high burden of illness for the individual, these diseases are associated with high socio-economic costs.

Better insights in the genetic causes of inherited neuromuscular disorders have paved the way for genetic testing that allows screening or confirming a diagnosis of neuromuscular disorder. These techniques are also used for the detection of carrier status in single-gene autosomal recessive disorders such as spinal muscular atrophy (SMA). Recent advances in therapy development for neuromuscular disorders have highlighted the need for early diagnosis, as these therapies are most efficacious at a pre-or pauci-symptomatic stage of the disease, before irremediable loss of muscles or motor neurons occur. As an example, results from clinical trials in SMA, showing a normal development in patients treated pre-symptomatically, have raised the hope that early intervention will significantly modify the subsequent course of the disease. These developments have highlighted the need for newborn screening of treatable neuromuscular diseases such as SMA, which is currently implemented or emerging in different countries.

Strategies to reduce the frequency of neuromuscular diseases include pre-conception carrier screening, providing guidance for couples considering a future pregnancy, and newborn screening, allowing an early treatment intervention to modify the course of the disease. Both options have implications in terms of feasibility, coverage and success rate, ethical aspects, health economical aspects. Pro and contra will be discussed.

  • Dr. Nathalie Marie Louise Goemans (Moderator)
    UZ Leuven Gasthuisberg Campus

  • Prof. Dr. Liesbeth de Waele (Moderator)
    University Hospitals Leuven

  • Prof. Yoram Nevo (Debate Speaker)
    Schneider Children's Medical Center

Ends at 18:30

14:00

PH1 GNE pathogenic variant p.D207V rarely leads to myopathy in homozygotes; GNE might not be the only pathogenic determinant of GNE myopathy
  • Dr. Wakako Yoshioka
    National Institute of Neurology and Psychiatry

14:05

PH2 scAAV.U7snRNA-mediated therapy: prolonged dystrophin expression and muscle function correction in adult Dup2 mice
  • Dr Liubov Gushchina
    The Research Institute at Nationwide Children's Hospital

14:10

PH 3 Muscle ultrasound in COL6-related muscular dystrophy: Patterns and progression
  • Dr. Safoora Syeda
    NIH

14:15

PH 4 Efficacy and safety of mexiletine in non-dystrophic myotonias: a randomized, double-blind, placebo controlled, cross-over study

14:20

PH 5 Longitudinal developmental profile of newborns and toddlers treated for spinal muscular atrophy
  • Magali Ngawa
    CHR Citadelle

14:25

PH 6 Efficient modification of DMD gene using PRIME editing
  • Mr. Cedric Happi Mbakam
    CHUL de Québec Research Center, Laval University

14:30

PH7 - Q&A Poster highlights
  • Dr. Johann Böhm
    IGBMC

  • Dr Jantima Tanboon
    Siriraj Hospital, Mahidol University

  • Dr. Wakako Yoshioka
    National Institute of Neurology and Psychiatry

  • Dr Liubov Gushchina
    The Research Institute at Nationwide Children's Hospital

  • Dr. Safoora Syeda
    NIH

  • Magali Ngawa
    CHR Citadelle

  • Mr. Cedric Happi Mbakam
    CHUL de Québec Research Center, Laval University

Ends at 14:45

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