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

9:05 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
  • Pavel Balabanov Head of Therapies for Neurological & Psychiatric Disorders, European Medicines Agency
  • Jane Larkindale Executive Director, Duchenne Regulatory Science Consortium, Executive Director, Rare Disease Cures Accelerator- Data and Analytics Platform

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?

9:45 am Outcome Measures in Neuromuscular Disease: Establishing Minimal Clinically Important Difference (MCID)

Synopsis

  • What is MCID and Why Do We Need It?
  • How to Establish MCID
  • Limitations of MCID
  • Summary and Recommendations for Practical Application

 

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?

10:35 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

11:00 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 EMG, Force Recording or Neuromuscular Junctions Histology: Which is Best for NMD Preclinical Trials?

Synopsis

  •  We will be presenting data on EMG and force recording, or EMG and NMJ imaging, collected on the same mice, to compare the sensitivities of these assays
  • These three approaches are clinically relevant, translational measures for drug testing on NMD models
  • We present the new EMG technique of the CMAP scan, we will also illustrate that changes in the motor units in ALS models are not exactly the same as in human patients

12:15 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

12:40 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

1:05 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
  • Laurent Bogdanik Associate Director, In Vivo Pharmacology Services, Neurobiology, Jackson Laboratory

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

2:15 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

2:40 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

3:05 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

3:50 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 ?

4:15 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

4:40 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

5:05 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