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

Coffe Break (Paid Presentation) + 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, 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, Spark Therapeutics Inc
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 (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

Ready to Register?

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