WMS 2021 Virtual Congress Industry Day - Monday, 20 September 2021 

WMS Industry Symposium 1

Advancing scientific discoveries to the clinic: Precision genetic therapies for muscular dystrophies - Sarepta Therapeutics

The dystrophin associated protein complex (DAPC) is a transmembrane scaffolding machine that plays a crucial role in the functioning of muscle, ensuring membrane stability and force transduction during muscle contraction. The pathophysiology of several genetic NMDs, like Duchenne muscular dystrophy (DMD) and some Limb Girdle Muscular Dystrophies (LGMDs) stem from the malfunction of some of its components, making DAPC restoration an attractive approach to impact the mechanism of disease in multiple muscular dystrophies. The relentless pursuit to develop next-generation therapies for patients with NMD has allowed research into the DAPC, potentiating future progress into precision genetic therapies for patients with NMD, and the journey is not over yet.

In this session, we will present an overview of research milestones that led to the investigation of precision genetic therapies for these rare diseases, from RNA-based therapies for DMD to gene therapies for DMD and LGMD. The impact of recent developments in the gene therapy field will be discussed through key learnings from research, literature, and clinical trials over the years. We look forward to your attendance at this symposium.

WMS Industry Symposium 2

Advancing the treatment of nmDMD through the disease continuum - PTC Therapeutics

This symposium will:

• provide an overview of the totality of evidence for Translarna▼(ataluren)* and the latest results of long-term and real-world Translarna use for treating patients with nonsense mutation Duchenne muscular dystrophy (nmDMD)
• review the DMD disease continuum and the impact of delaying milestones on disease progression
• highlight the importance of early and continued intervention for slowing disease progression
• understand the challenges encountered by patients with nmDMD who are transitioning from pediatric to adult care
• discuss the management of patients with nmDMD using Translarna throughout the disease continuum

WMS Industry Symposium 3

The Era of Gene Therapy: Therapeutic Potential and Immunology Insights - Novartis Gene Therapies

This symposium will:

• Review the evolution of the versatile AAV gene therapy (GT) platform to overcome challenges with earlier viral vectors
• Examine immunological mechanisms following GT administration and potential strategies to mitigate/manage immune responses
• Reflect on the growing evidence for a manageable AAV GT safety profile
• Discuss the transformative potential of GT to improve clinical outcomes
   

WMS Industry Symposium 4

SMA: SMA in the spotlight: from newborns to adults & DMD: Connecting the dots between natural history and clinical advances in Duchenne muscular dystrophy - F. Hoffmann-La Roche Ltd.

This SMA symposium will:

• provide an overview of the treatment landscape in pre-symptomatic SMA, including key efficacy and safety outcomes for Evrysdi®▼(risdiplam)
• emphasise the importance of newborn screening and to provide an overview of the current progress in this area
• discuss current/remaining unmet needs in SMA and what the future may hold for those living with this disorder

This DMD symposium will:

• explore the natural history, current management, and unmet needs of individuals living with Duchenne muscular dystrophy (DMD)
• highlight the heterogeneity of individuals with DMD observed in the natural history, explaining the importance of considering the diversity of DMD profiles when designing clinical trials and setting treatment expectations
• explore the results of the SRP-9001-102 study in the context of the natural history and characteristics of the patient population enrolled in the trial, discussing how these data may provide the first placebo-controlled proof of principle of the biological and functional activity of SRP-9001 micro-dystrophin in people with DMD

WMS Industry Symposium 5

Advances in Assessment of FSHD and Clinical Trial Results with Losmapimod

This symposium sponsored by Fulcrum Therapeutics will discuss advancements in FSHD research, including novel outcome measures to monitor disease progression and impact to patients, and results of two Fulcrum sponsored clinical trials. Fulcrum is evaluating losmapimod, an orally active, selective, small molecule inhibitor of p38α/β MAP kinase, as a potential disease-modifying treatment in FSHD. The results of a Phase 2b randomized, double-blind, placebo-controlled multicenter study of losmapimod (ReDUX4) and design of a Phase 2 single site open-label study will be presented.

WMS Industry Symposium 6

Advancing our Management of Pompe Disease: Precision Imaging and the Role of the M6P Receptor - Sanofi Genzyme

The symposium titled Advancing our management of Pompe disease: Precision imaging and the role of the M6P receptor, sponsored by Sanofi Genzyme, will take place on Monday 20th September, 2021 at 17:00-18:30 BST. Attendees will hear from the symposium chair, Dr. Robin Lachmann, consultant of Metabolic Medicine at the Charles Dent Metabolic Unit, University College London Hospitals NHS Foundation Trust, and speakers Dr Juan C. Llerena Jr., Clinical Genetic Consultant and Director of the Medical Genetics Centre of the National Institute Fernandes Figueira, Brazil and Professor Anna Pichiecchio, Associate Professor in Neuroradiology at the University of Pavia and Acting Director of the Neuroradiology Department at the Neurological Institute 'C. Mondino', Italy. There will be exciting discussions on advancing our management of Pompe Disease, including precision imaging techniques that help us better understand muscle involvement and the important role of the mannose-6-phosphate receptor.

WMS Industry Symposium 7

Late-onset Pompe disease: bringing patient disease management into focus - Amicus Therapeutics

Late-onset Pompe disease (LOPD) is a multisystemic, progressive and debilitating disorder, characterized by slowly progressive skeletal muscle dysfunction and ventilatory insufficiency. The multisystemic, heterogenous nature of LOPD means that disease management requires a multidisciplinary and coordinated approach to patient management (as described in published guidelines and consensus statements). This disease education symposium will focus on the importance of taking a holistic approach to comprehensive patient health assessments. Recent evidence demonstrating utility of MRI and ultrasound use in assessing muscle health and diaphragm weakness in patients with LOPD will be examined. Furthermore, we will hear directly from patients on the effects that LOPD has on their quality of life and activities of daily living.

WMS Industry Symposium 8

Biomarkers of Nerve and Muscle Changes in SMA and ALS - Biogen

Please join us for this 90-minute symposium, including 30-minutes live Q&A, where our panel of neurology experts discuss the use of fluid biomarkers in basic research, clinical trials, and clinical practice. With a focus on the universal biomarkers of neuronal injury and muscle metabolism, neurofilaments, creatine kinase and creatinine, together with biomarkers of specific gene mutations, we review what has been learned about disease evolution in ALS and SMA, consider what this may mean for the timing of therapeutic interventions, and discuss the potential utility of these biomarkers in predicting and evaluating therapeutic response.

WMS Industry Symposium 9

Updates on XLMTM and the ASPIRO Study – an Opportunity for Discussion - Astellas Gene Therapies

This Astellas Gene Therapies organized and funded Legitimate Exchange of Medical and Scientific Information (LEMS) features an interactive discussion of X-linked myotubular myopathy (XLMTM), a life-threatening congenital myopathy characterized by respiratory insufficiency and absent or delayed motor milestones. This session will provide a multidisciplinary overview of XLMTM, including disease burden and respiratory and motor function with feedback and discussion actively encouraged. The discussion and exchange of information will focus on the management of respiratory and motor function in XLMTM and corresponding data from the ongoing ASPIRO study of an investigational gene replacement therapy. Additional topics include an overview of the genetics of XLMTM, diagnosis, management options and goals, and investigational therapies in development. The session also includes an overview of the ASPIRO safety data and additional considerations for the treatment and management of patients with XLMTM. The session ends with a moderated discussion and live Q&A session.

WMS Industry Symposium 10

Understanding the Fundamentals of Investigational Gene Therapy for Lysosomal Storage Disorders: A Focus on Pompe Disease - Spark Therapeutics

This symposium aims to aid attendees in establishing an understanding of the core concepts of investigational gene therapy for lysosomal storage disorders, with a specific focus on approaches being explored for Pompe Disease.
Topics that will be covered include the components of investigational gene therapy, the different approaches and target issues of interest and considerations for each potential gene therapy approach. The concept of immunogenicity in the context of investigational gene therapy, as well as potential strategies to mitigate immunogenicity, will also be explored.