8.30 Online Registration & Virtual Coffee Networking

9:00 am Chairs Opening Remarks

Revealing the mission & focus for the meeting: Developing Clinically Curative Therapeutics for Neuromuscular Disorders; Putting the Patient First Setting the tone of openness, discussion and collaboration. Bringing information across diseases and modalities that can be translated across other programs for therapeutic success

9:10 am Kick-Off Panel Discussion: Dissecting Fundamental Questions Arising for Each Therapeutic Approach

  • Paulo Fontoura Global Head & SVP, Neuroscience & Rare Diseases Clinical Development, Roche
  • Andrew A Wolff Senior Fellow, Clinical Research & Development, Cytokinetics

Synopsis

• A critical overview of the current status of knowledge and therapies for neuromuscular disorders, focusing on ALS, SMA and DMD

• What have we unravelled over the last year that will drive more effective clinical development to reach patients in need?

• What are the unique challenges for ASO therapy, gene therapy, gene modification and small molecules

• How can we solve the current clinical development challenges such as demonstrating efficacy and effectiveness to quickly realise true victory for patients?

• What do we need to do as community to accelerate the discovery and development of meaningful treatments?

• Different therapies for the same disease, what should we be looking to learn and compare and contrast with these different approaches in the next few years?

9:50 am Uncovering the Right Clinical Outcome Measures for Each Specific Neuromuscular Disease

Synopsis

• Selecting outcome measures when designing clinical trials for neuromuscular disease

• Exploring the need for outcome measures that show subtle improvements for slowly progressing diseases

• Challenges and limitations of current outcome measures in neuromuscular disease

• How to establish clinical meaningfulness

10:10 am Emerging Neurophysiological Methods – New Assessment Tools

  • Seward Rutkove Professor of Neurology & Chief of the Division of Neuromuscular Disease, Harvard Medical School/Beth Israel Deaconess Medical Center

Synopsis

• Refining tools that can accurately assess the effects of therapy

• Quantitative ultrasound technologies and electrical impedance myography

• What are the most accurate clinical neurophysiological measures?

• How do you use these technologies to give more quantitative, faster readouts, both preclinically and clinically to be meaningful both to the FDA and to pharma companies?

10:30 am The Need to Explore Digital/Video Capture Tools to Improve Therapeutic R&D in DMD Trials

  • Pat Furlong Founding President & CEO, Parent Project Muscular Dystrophy (PPMD)

Synopsis

• How can digital measures be used as a tool to more accurately capture functional data?

• Seeking innovative ways to capture data to increase our knowledge of disease progression and heterogeneity in DMD

• Variability in real-world monitoring

• New wearables being infiltrated across clinical trials , advances in mobile apps and use of video capturing outcome measures

10:50 am Live Q&A

  • Katherine Meilleur Principal Clinical Scientist, Neuromuscular Development Unit, Biogen
  • Seward Rutkove Professor of Neurology & Chief of the Division of Neuromuscular Disease, Harvard Medical School/Beth Israel Deaconess Medical Center
  • Pat Furlong Founding President & CEO, Parent Project Muscular Dystrophy (PPMD)

11:20 am Virtual Speed Networking Break

Synopsis

Grab a quick cup of coffee from the comfort of your own kitchen and jump straight into this exclusive virtual speed networking! This session is the ideal opportunity to meet face-to-face (albeit 2D faces) with many of the brightest minds working on neuromuscular disorders and establish meaningful business relationships.

11:50 am Session Reserved for The Jackson Laboratory

12:10 pm Leveraging Analytical Tools & Models for More Effective Neuromuscular Drug Development

  • Jane Larkindale Executive Director, Duchenne Regulatory Science Consortium, Executive Director, Rare Disease Cures Accelerator- Data and Analytics Platform

Synopsis

• Developing an understanding of natural history and how it may be used to improve the design of clinical trials in neuromuscular diseases

• Use of mathematical models to understand variance in outcome assessments and how to optimize their use in clinical trials.

• Process for development of tools (biomarkers, outcome assessments, models) to accelerate drug development, need for regulatory acceptance.

• How best should we navigate this complex regulatory landscape? Assessing our unique relationship with the regulators and what this has taught us

12:30 pm Evaluating the Role of Biomarkers – Integrating Biomarkers in Clinical Trials Through DMD Case Studies

  • Eric Hoffman Associate Dean of Research/Co-Founder & VP, ReveraGen Biopharma, SUNY Binghamton School of Pharmacy

Synopsis

• Are we spending too much time and ascribing too much value on biomarkers? How and when are biomarkers useful? Context of use and fit for purpose

• Addressing the misuse and misunderstanding of what is a surrogate biomarker, predictable response, clinical response biomarkers

• Exploring to what extent biomarkers can allow the identification of treatment targets more efficiently

• Exploratory pharmacodynamic biomarkers for efficacy in clinical programs

• How do regulatory agencies approach the integration of biomarkers in clinical trials?

• Biomarker outcome measures outside dystrophin; membrane stability, inflammation, sleep

12:50 pm Live Q&A

  • Jane Larkindale Executive Director, Duchenne Regulatory Science Consortium, Executive Director, Rare Disease Cures Accelerator- Data and Analytics Platform
  • Eric Hoffman Associate Dean of Research/Co-Founder & VP, ReveraGen Biopharma, SUNY Binghamton School of Pharmacy

1:20 pm Networking Lunch

Deep Dive into SMA Drug Development

1:50 pm Discovering an Innovative Approach to Trial Design for Real World SMA Population

  • Paulo Fontoura Global Head & SVP, Neuroscience & Rare Diseases Clinical Development, Roche

Synopsis

• Designing a clinical development program across a range of ages and disabilities

• Evaluating whether SMN protein or other blood biomarker levels associate with improved motor function in SMA patients and using these to monitor or predict treatment outcomes

• Determining the right dose based on the biomarker, pivot from dose ranging safety portion to the efficacy and building efficacy end-points into both stages

• How submitting PKPD and exploratory efficacy data early on led to seamless development, phase 1 to phase 3 and fast regulatory approval, filling for the FDA with early data

2:10 pm The Challenge of Optimizing Therapeutic Efficacy in SMA

  • Charlotte J. Sumner Professor of Neurology, Neuroscience, Johns Hopkins University School of Medicine

Synopsis

• Several factors may underlie variable treatment outcomes in SMA patients

• Neonatal screening enables prompt diagnosis and early initiation of treatment

• Serum neurofilament may serve as a useful biomarker of disease activity and treatment response

• Combinatorial treatments may improve SMA treatment outcomes

2:30 pm Translational Approaches for Treatment of Neuromuscular Disorders

  • Nikolai Naryshkin Vice President , External Research & Alliance Management, Translational Medicine, PTC Therapeutics, Inc

Synopsis

• Translation of molecular genetics and drug discovery approaches to discover and develop SMA therapeutics

• Using what we have learnt in the SMA program to build a splicing drug discovery platform

• Innovating gene therapy approaches in neuromuscular disorders

2:50 pm Live Q&A

  • Paulo Fontoura Global Head & SVP, Neuroscience & Rare Diseases Clinical Development, Roche
  • Charlotte J. Sumner Professor of Neurology, Neuroscience, Johns Hopkins University School of Medicine
  • Nikolai Naryshkin Vice President , External Research & Alliance Management, Translational Medicine, PTC Therapeutics, Inc

3:20 pm Virtual Coffee Break

3:40 pm Exploring Pharmacodynamic Safety Profiles for Successful Clinical Translation

  • Eva Chin Chief Development Officer, NMD Pharma

Synopsis

• Dissecting various dosing strategies and dosing versus efficacy

• Addressing translational challenges of extrapolating animal dosage predictions and demonstrating optimal doses

• How can we demonstrate a clear mechanistic route between dose, mechanisms of action and endpoints?

• How can we increase the probability of dosing high enough to reach efficacious concentrations and ensure target engagement?

• What are the best end points for your mechanism of action and what are the biomarkers that align with your primary endpoints?

• How do we ensure safety and efficacy going into the clinic?

• How do we implement biomarkers from the safety point of view ?

4:00 pm Phase 3 Myasthenia Gravis Study of the FcRn Antagonist Efgartigimod

Synopsis

• Brief overview of Myasthenia Gravis and diving into the novel mode of action of efgartigimod

• Evaluating Phase 3 ADAPT trial design and redosing strategy based on patient symptoms, an individualized treatment approach

• Assessing the safety and efficacy of efgartigimod in patients including secondary endpoints and prespecified analyses

4:20 pm Build It & They Will Come, Sometimes: The Burden of Trial Recruitment in Neuromuscular Disease

  • Jodi Wolff Head of Patient Advocacy, Santhera Pharmaceuticals

Synopsis

• Problem solving during a clinical trial, an exploration of the pain points of trials in the non-ambulatory neuromuscular population

• Recruiting and communication plans for phase 3 trials, how to cast a wide net

• Planning and conducting clinical trials with the input of patients for more commercial, ethical and patient centric trials

• How to collaborate with patient advocacy groups, driving effective and transparent communication between all parties, embedding patient centricity across all aspects of drug development

• Using these key learning to drive ALS and SMA clinical trials in nonambulatory patients

4:50 pm Live Q&A

  • Eva Chin Chief Development Officer, NMD Pharma
  • Peter Ulrichts Scientific Lead Neuromuscular Franchise, Argenx
  • Jodi Wolff Head of Patient Advocacy, Santhera Pharmaceuticals

5:20 pm Chairs Closing Remarks