Program

The interactive Breakthroughs in Muscular Dystrophy (November 19-20, 2024) program below is updated live as speakers and sessions are confirmed.

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Program

Tuesday, November 19

Attendee Breakfast
7:30 - 8:30 a.m.

Opening Remarks from Jeffrey Chamberlain, PhD
8:30 - 8:35 a.m.

Keynote - Genetic Therapies for Muscular Dystrophies: Opportunities and Challenges
8:35 - 9:35 a.m.
Chair: Jeffrey Chamberlain, PhD, University of Washington

• Cloning the Duchenne Gene - An Origin Story
  Louis Kunkel, PhD, Children's Hospital Boston
• Clinical Aspects of Gene Therapies for Muscular Dystrophies - Challenges and Opportunities
  Carsten Bönnemann, MD, NINDS/NIH

Non-Viral Delivery
9:35 - 10:35 a.m.
Chair: Monkol Lek, PhD, Yale School of Medicine

• Advancing Non-Viral Delivery via Battelle's HIT SCAN Platform
  Kenneth Sims, PhD, Battelle Memorial Institute
• A targeted, non-viral platform to deliver the full-length dystrophin gene
  Nick Whitehead, PhD, Myosana Therapeutics

Coffee Break, Paid Presentation, and Exhibits
10:35 - 11:05 a.m.

Viral Delivery
11:05 a.m. - 12:05 p.m.
Chair: Melissa Spencer, PhD, UCLA

• Monitoring Viral Delivery with Non-invasive Imaging
  Oluwatayo Ikotun, PhD, University of California, Los Angeles
• Split-Inteins
  Jeffrey Chamberlain, PhD, University of Washington

Attendee Lunch + Exhibits
12:05 - 1:05 p.m.

Monitoring AAV Delivery
1:05 - 2:30 p.m.
Chair: Carsten Bönnemann, MD, NINDS/NIH

• Intro to Monitoring AAV Delivery
  Federico Mingozzi, PhD, stealth company

• Vector Immunology
  J. Fraser Wright, PhD, Stanford School of Medicine

• Modeling and Tolerizing Dystrophin Immunity in Mice
  Armando Villalta, PhD, UC Irvine

• Enabling Readministration/Redosing
  Barry Byrne, MD, PhD, University of Florida

Coffee Break + Exhibits
2:30 - 2:40 p.m.

Gene Editing
2:40 - 3:30 p.m.
Chair: Angela Lek, PhD, VP of Research, MDA

• A Novel Dual Vector Approach for Safe and Efficient Expression of Large Genes using RNA End-joining (REJ)
  Samuel Pfaff, PhD, The Salk Institute for Biological Studies
• Genome Editing for Duchenne Muscular Dystrophy
  Charles Gersbach, PhD, Duke University

Coffee Break (Paid Presentation) + Exhibits
3:30 - 4 p.m.

Oral Abstract Session
4 - 5:45 p.m.
Chairs: Evrim Atas, PhD and Angela Lek, PhD MDA

• 1. Editing of Postmitotic Muscle and Satellite Cells for Continuous Correction of Dystrophin Expression in Duchenne Muscular Dystrophy 
  Niclas Bengtsson, PhD, University of Washington 

• 2. CSF Delivery of INS1201 AAV9-Micro-Dystrophin as a Potential Therapy for DMD 
  Gretchen Thomsen, PhD, Insmed, Inc. 

• 3. Therapeutic Potential of ENTR-601-44, an Endosomal Escape Vehicle (EEVTM) - Oligonucleotide Conjugate for the Treatment of Exon 44 skip Amenable DMD 
  Mahasweta Girgenrath, PhD, Entrada Therapeutics Inc 

• 4. Development of Gene Therapy for LGMD-R9 
  Evelyne Gicquel, PhD, Genethon

• 6. GNT0004, Genethon's AAV8 Vector-delivered Microdystrophin Gene Therapy for Duchenne Muscular Dystrophy: First Data from Phase 1/2 Part of GNT-016-MDYF All-in-one Clinical Trial in Ambulant Boys 
  Serge Braun, PhD, AFM TELETHON / GENETHON  

• 58. RGX-202, an Investigational Gene Therapy for the Treatment of Duchenne Muscular Dystrophy: Interim Clinical Data 
  Jahannaz Dastgir, DO, REGENXBIO Inc. 

• 5. The Venture Philanthropy Model of Drug Development - Working with Non-Profit Foundations and Governments from Concept to Drug Approval 
  Eric Hoffman, PhD, Binghamton University 

Poster Reception + Exhibits
5:45 - 7 p.m.

Poster Hall 1: Great Lakes Room

• 7. U7snRNA as a Tool for Restoring Dystrophin Expression in Patients with Exon 17 Skip-Amenable Deletions 
  Liubov Gushchina, PhD, The Ohio State University and Nationwide Children's Hospital RI 
   
• 8. KT809 Dose-Dependently Improves Muscle Function in a Severe DMD Mouse Model and Results in High and Uniform Microdystrophin Expression in the Heart and Skeletal Muscles of Non-Human Primates 
  Chady Hakim, PhD, Kate Therapeutics 
   
• 9. Full-Length Dystrophin Gene Delivery Using Triple MyoAAV Vectors 
  Renzhi Han, PhD, Indiana University School of Medicine
   
• 11. (Withdrawn) CRISPR/hfCas12Max DNA Editing Therapy Restores Dystrophin Protein and Muscle Functions in Duchenne Muscular Dystrophy
  Guoling Li, PhD, HuidaGene Therapeutics Co., Ltd
   
• 12. (Withdrawn) Precise Correction of Duchenne Muscular Dystrophy via Exon-Skipping Using Compact Base Editor

  Guoling Li, PhD, HuidaGene Therapeutics Co., Ltd
   
•  13. A Comparative Analysis of Long-Term and Short-Term Outcomes of AAV-CRISPR Treatment in a Canine Model of Duchenne Muscular Dystrophy 
  Rika Maruyama, PhD, University of Alberta 
   
• 14. (Virtual) Rational Design and Rigorous Testing of Novel, Non-Immunogenic Dystrophin Mimetics Providing Superior Cardioprotection and Biomechanical Stability in vivo
  Hansell Stedman, MD, University of Pennsylvania
   
• 15. Wearable Device Outcomes From EMBARK, a Pivotal Phase 3 Study in Patients With Duchenne Muscular Dystrophy Treated With Delandistrogene Moxeparvovec 
  Paul Strijbos, PhD, F. Hoffmann-La Roche Ltd 
   
• 16. Turbo-Charging Gene Therapy for Genetic Muscle Disorders using Novel Transcriptional Cis-Regulatory Elements 
  Thierry Vandendriessche, PhD, Free University of Brussels (VUB) 
   
• 18. Development of Pilot Potency Assessments for MyoDys^45-55, a Gene Editing Therapy for Duchenne Muscular Dystrophy 
  Courtney Young, PhD, MyoGene Bio 
   
• 19. (Virtual) A Transformative DMD Cytosine Base Editing Drug
  Chunyan He, PhD, Suzhou GenAssist Thx
   
• 20. (Virtual) Drug Metabolism and Pharmacokinetics in Mice Systemically Administrated with a Base Editing Drug for Duchenne Muscular Dystrophin (DMD)
  Chunyan He, PhD, Suzhou GenAssist Thx
   
• 21. Screening of Treatment-Emergent Anti-Dystrophin Antibodies: A Validated, Regulatory-Compliant LIPS Assay Covering 100% of Dystrophin
  Eric Hoffman, PhD, Binghamton University
   
• 22. Development of a 248 Kilodalton Midlength-Dystrophin Gene Therapy for DMD using an AAV-Based RNA End-Joining Approach
  Gretchen Thomsen, PhD, Insmed, Inc.
   
• 23. Optidys, a New Gene Therapy Product for Duchenne Muscular Dystrophy, Shows Therapeutic Potential and Advantage over Current Treatments
  Evelyne Gicquel, PhD, Genethon
   
• 24. AUF1 Gene Therapy for DMD Increases Durable Endogenous Utrophin Expression, Muscle Regeneration, Muscle Function Performance and Synergizes With Microdystrophin Therapy
  Dounia Abbadi, PhD, NYU School of Medicine
   
• 25. AUF1 Gene Therapy Restores Muscle Morphology and Function in Limb Girdle Muscular Dystrophy Recessive 1 (LGMDR1, calpainopathy)
  Dounia Abbadi, PhD, NYU School of Medicine
   
• 26. An Engineered AAV Targeting Integrin Alpha V Beta 6 Presents Improved Myotropism Across Species
  Anthony Brureau, PhD, GENETHON
   
• 27. Overcoming Phenotypic Variability in Dystrophic Models: A Machine Learning Method for Refined Gene Therapy Evaluation
  Anthony Brureau, PhD, GENETHON
   
• 28. A Universal Approach to Potency Assay Development for AAVs Delivering Micro-RNAs
  Jason McCoy, PhD, Nationwide Children's Hospital
   
• 29. Developing a Second Generation Proviral Plasmid to Reduce Aberrant Cross Packaging and ITR Promoter Activity in AAV Vector Preparations
  Pranali Mistry, Nationwide Children's Hospital
   
• 30. CRISPR-Cas13d Gene Therapy for Facioscapulohumeral Muscular Dystrophy
  Kate Neal, Nationwide Children's Hospital
   
• 31. Development of KT323 as a Potent and Safe Gene Therapy Candidate for Facioscapulohumeral Muscular Dystrophy (FSHD) Through High Throughput AAV Capsid and Cargo Engineering
  Saurav Seshadri, PhD, Kate Therapeutics
   
• 32. Efficient Expression of Full-Length SMCHD1 in Muscles Using Split Inteins
  Merlin Premalatha Thangaraj, PhD, Nationwide Children's Hospital
   
• 33. (Virtual) The Prevalence of Sleep Disorders among Individuals with Muscular Dystrophy: A Review of the Literature
  Nedra Whitehead, PHD, CGC, RTI International

• 34. (Virtual) BIN1 Gene Replacement Reverts BIN1-Related Centronuclear Myopathy in a Preclinical Model
  Jocelyn Laporte, PhD, CERBM IGBMC

• 35. Functional Benefit of CRISPR/Cas9-Induced Deletion for RYR1 Dominant Mutation
  Isabelle Marty, PhD, Inserm

Poster Hall 2: Ontario and Erie Rooms

• 36. Correcting Mutations in the DYSF Gene Using Prime Editing 
  Jacques Tremblay, PhD, Université Laval and CRCHUQ
   
• 37. Multiplex Base Editing in Primary Human Muscle Stem Cells to Address Compound Heterozygous Muscular Dystrophy
  Supriya Krishna, MDC Berlin
   
• 38. Functional Efficacy of SRP-9004 in Young and Aged LGMD2D/R3 Mice
  Luke Lemmerman, PhD, Sarepta Therapeutics, Inc.
   
• 39. Patient-derived stem cells for in vitro modeling of LAMA2-related Congenital Muscular Dystrophy
  Jaquelyn Villalba, Cedars-Sinai Medical Center
   
• 40. AAV Delivery of ADAR Mediated RNA Editing for Treatment of Collagen VI Related Muscular Dystrophy
  Russell Butterfield, MD, PhD, University of Utah
   
• 41. Etiology of a Mouse Model of CHKB mediated muscular dystrophy - A Platform for Gene Therapy for Disorders of Lipid Synthesis
  Christopher McMaster, PhD, Dalhousie University
   
• 42. Treatment of a Severe DM1 Mouse Model with Verapamil, Amlodipine, and Ranolazine
  Lily Cisco, University of Rochester
   
• 43. Splicing is improved using a novel AAV-microRNA delivery platform as a treatment for Myotonic Dystrophy Type 1
  Martin Goulet, PhD, Sanofi
   
• 44. Enhancing Antisense Oligonucleotide Efficacy Using Small Molecule Oligonucleotide Activity Enhancers (OAEs) 
  Saeed Anwar, University of Alberta
   
• 45. Development of a New DUX4-Responsive Reporter Mouse
  Jessica Camp, Nationwide Children's Hospital
   
• 46. Spatial Transcriptomic Characterization of an AAV-DUX4 Mouse Model of FSHD Identifies Focal and Widespread Cell Type Expression Changes in Muscle
  Joel Chamberlain, PhD, University of Washington School of Medicine
   
• 47. Development and Characterization of a Minipig Model of Facioscapulohumeral Muscular Dystrophy (FSHD)
  Chris Rogers, PhD, Exemplar Genetics
   
• 48. Human Stem Cell-derived Engineered Skeletal Muscle Tissues to Test Epigenetic Modulators and Deimmunized Gene Transfer Strategies for Duchenne Muscular Dystrophy 
  David Mack, PhD, University of Washington Medicine 
   
• 49. Delandistrogene Moxeparvovec Promoter Activity in Human Cardiomyocytes and Cardiac Safety Assessment in Mice and Nonhuman Primates 
  Stephen Baine, PhD, Sarepta Therapeutics 
   
• 50. Reduction of Dystrophin-Targeting microRNAs Increases Expression of Clinically Relevant Dystrophin Isoforms
  Alyson Fiorillo, PhD, Virginia Commonwealth University
   
• 51. Template-Assisted Sequence Knock-In Rescues a Deletion Model of Duchenne Muscular Dystrophy
  Sina Fatehi Someeh, The Hospital for Sick Children (SickKids)
   
• 52. Correction of DMD Exon 45 Deletion Using Homology-Independent Targeted Integration
  Stefan Nicolau, MD, Nationwide Children's Hospital
   
• 53. Ultrasound-Mediated Delivery of Non-Viral Gene Therapy Payloads to Skeletal and Cardiac Muscles in Mice and Non-Human Primates
  Ivan Krivega, PhD, SonoThera
   
• 54. Bioengineered Synthetic Chromosomes as Therapeutics for Muscular Dystrophies
  Edward Perkins, PhD, CarryGenes Bioengineering
   
• 55. Exon 45 Skipping and Dystrophin Production with ENTR-601-45 in Preclinical Models of Duchenne Muscular Dystrophy
  Amy Hicks, PhD, Entrada Therapeutics
   
• 56. A Synergistic Oligonucleotide Therapy to Improve Muscle Health and Dystrophin Restoration in Duchenne Muscular Dystrophy
  James Novak, PhD, Children's National Hospital
   
• 57. A Novel IP-Mass Spectrometry Method to Characterize the Dystrophin Associated Protein Complex in Skeletal Muscle
  Emily Canessa, Binghamton University
   
• 59. (Virtual) Cellular Mapping of DMD Transcript in Human Myogenic Cells and Skeletal Muscle by RNA in Situ Hybridization and Multiphoton Imaging
  Alessandra Ferlini, MD, PhD, University of Ferrara
   
• 60. Gene Transfer to Muscle Using HSV Vectors
  Selene Ingusci, PhD, University of Pittsburgh
   
• 61. Correction of Nonsense Variants in DMD Using AAV-Compatible Base and Prime Editing
  Ryan Marks, The Hospital for Sick Children
   
• 62. Extensor Digitorum Brevis Feasibility for Cell-Based Therapy for Duchenne Muscular Dystrophy
  John Martone, University of Minnesota
   
• 63. (Virtual) Transcriptomics Reveals DMD Driven Cell Dynamics and Mechanisms of Myofiber Death and Innate Immune Memory in Human Dystrophic Muscle; Potential Barriers to Microdystrophin Gene Therapy
  Stanley Nelson, MD, UCLA
   
• 64. Development of Functionalized Lipid Nanoparticles for Enhanced Micro-Dystrophin Delivery in Duchenne Muscular Dystrophy Therapy
  Andrea Pirrottina, University of Rome

• 65. A Novel Engineered Membrane Repair Protein Therapeutic Increases Sarcolemma Repair by Producing Phosphatidylserine Binding in Models of Duchenne Muscular Dystrophy
  Noah Weisleder, PhD, University of Kentucky

• 66. Prime Editing Permits to Correct Point Mutations Responsible for Many Muscular Dystrophies
  Jacques Tremblay, PhD, Université Laval and CRCHUQ

• 67. Combinatorial in vitro and in vivo Phage Display Methodology to Identify Skeletal Myocyte Targeting Cell Penetrating Peptides
  Maliha Zahid, MD, PhD, Mayo Clinic

Wenesday, Novemeber 20

Attendee Breakfast
7:30 - 8:30 a.m.

RNA Targeted Therapies
8:30 - 10:15 a.m.
Chair: Scott Harper, Ohio State University & Nationwide Children's Hospital

• Enhancing the Delivery of Antisense Oligonucleotide Therapies: Innovative Approaches for Muscular Dystrophy
  Toshifumi Yokota, PhD, University of Alberta, Edmonton, AB
• Translating RNAi-based Gene Therapies for Dominant Neuromuscular Disorders
  Lindsay Wallace, PhD, Nationwide Children's Research Institute, Columbus, OH
• RNA Therapies to Investigate the Impact of Dystrophin Restoration in the CNS of Dystrophic Mouse Models
  Aurelie Goyenvalle, PhD, University of Versailles Saint Quentin En Yvelines
• Panel Discussion

Coffee Break and Paid Presentation
10:15 - 10:45 a.m.

Panel: Future of Genetic Therapies for Muscular Dystrophies
10:45 a.m. - 12 p.m.
Chair: Sharon Hesterlee, Chief Research Officer, Muscular Dystrophy Association

• Panelists
  Jeffrey Chamberlain, PhD, University of Washington
  Carsten Bönnemann, MD, NINDS/NIH
  Katherine High, MD, Rockefeller University
  Barry Byrne, MD, PhD, University of Florida
  Melissa Spencer, PhD, UCLA

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Thank You to the Organizing Committee

• Jeffrey Chamberlain, PhD
  University of Washington
• Angela Lek, PhD
  Muscular Dystrophy Association
• Evrim Atas, PhD
  Muscular Dystrophy Association
• Charlie Gersbach, PhD
  Duke University
• Toshifumi Yokota, PhD
  University of Alberta
• Manuela Corti, PhD
  University of Florida
• Monkol Lek, PhD
  Yale University
• Julie Crudele, PhD
  University of Washington
• Melissa Spencer, PhD
  UCLA
• Carsten Bönnemann, MD
  NIH
• Scott Harper, PhD
  The Ohio State University/Nationwide Children's Hospital