Agenda

September 26-28, 2024 Cambridge, MA
All times listed below are in Eastern Daylight Time (EDT)

Researcher Day

Thursday, September 26th

3:00 PM - 4:30 PM Young Researcher Innovation Forum
4:35 PM - 4:40 PM Welcome
4:40 PM - 4:55 PM Development of AAV9-Gene Therapy for SMARD1/CMT2S From Bench to Clinic

Kathrin Meyer, PhD, Assistant Professor, Physical Medicine and Rehabilitation, University of Missouri School of Medicine and Chief Scientific Officer, Alcyone Therapeutics

4:55 PM - 5:10 PM Investigations of Inosine as a Treatment for CMT1X

Charles Abrams MD, PhD, Professor, Department of Neurology and Rehabilitation, University of Illinois, Chicago

5:10 PM - 6:00 PM Blitz Presentations (In Person Only)

Development of a Novel Neuromuscular Organoid Model for Disease Modeling

Rob Prior, PhD, Postdoctoral Researcher, University of Bonn, Germany 

Small Molecule Modulators of a PRAF2 Complex Regulate PMP22 Proteostasis with Potential Therapeutic Benefit in CMT-1A

Tim Piser, PhD, Head of R&D, Samsara Therapeutics

A Mouse Model for ITPR3 Related CMT1 and Evaluation of ASO-induced Exon Skipping

Adriana Rebelo, PhD, Scientist, University of Miami, Miller School of Medicine

Novel Charcot-Marie-Tooth Type 2E (CMT2E) mouse models of Neurofilament Light (Nefl) E396K: Phenotypic Validation and Therapeutic Analysis

Dennis Perez-Lopez, PhD Candidate, University of Missouri

Application of Wearable Sensors to Assess Disease Severity in Adults with Charcot-Marie-Tooth Disease

Kayla Cornett, PhD, Postdoctoral Researcher, University of Sydney and Sydney Children’s Hospital Network

6:00 PM - 7:30 PM Welcome Reception and Poster Viewing (Open to All)

Researcher Day

Friday, September 27th

7:00 AM Breakfast & Networking

Complimentary Breakfast and Coffee Bar.

8:00 AM Welcome
Cleary Simpson, CEO, CMT Research Foundation
8:15 AM Patient Voices: Living with CMT
Eloise Schlafly, CMTRF Ambassador
8:30 AM Keynote Address: Intrathecal Gene Therapy for Giant Axonal Neuropathy: Leveraging Strategies and Opportunities Towards CMT Genetic Therapies 

Carsten Bönnemann, MD, Senior Investigator and Chief of the Neuromuscular and Neurogenetic Disorders of Childhood Section in the Neurogenetics Branch of the National Institute of Neurological Disorders and Stroke, National Institue of Health

9:00 AM Break
9:10 AM Therapeutic Approaches That Target the Biology of CMT

Moderator: Bruce D. Carter, PhD, Professor of Biochemistry, Vanderbilt University

Speakers:

You Can’t Fix What you Don’t Understand: Understanding Basic Biological Mechanisms to Identify Therapeutic Targets in CMT

Rob Burgess, PhD, Professor, Rare Disease Translational Center, The Jackson Laboratory

Discovery of Small Molecules that Alter the Trafficking of PMP22 as a Potential Route to CMT1A, CMT1E AND HNPP Therapies

Charles Sanders, PhD, Professor of Biochemistry & Medicine, Vice Dean of Basic Sciences and Associate Dean for Research, Vanderbilt University

Myotubularin-Related (MTMR) Phosphoinositide Phosphatases and Inherited Neuropathies

Alessandra Bolino, PhD, Group Leader, Human Inherited Neuropathies, Ospedale San Raffaele

10:10 AM Break
10:20 AM Therapeutic Approaches That Target the Biology of CMT (Continued)

Moderator: Bruce D. Carter, PhD, Professor of Biochemistry, Vanderbilt University

Speakers:

TRPV4 Inhibition in the Treatment of CMT2C

David Goldstein, PhD, Co-Founder and CEO, Actio Biosciences

NMD670, a Chloride Channel 1 (ClC-1) Inhibitor, a Novel Potential Therapeutic Alternative for Charcot-Marie-Tooth Disease

Jorge A. Quiroz, MD, MBA, Executive Vice President, Chief Medical Officer, NMD Pharma

Developing Best-in-Class HDAC6 Inhibitors for the Treatment of CMT1A

Frederik Rombouts, PhD, Vice President, Drug Discovery, Augustine Therapeutics

Activation of the IRE1/Xbp1 Pathway of the UPR Ameliorates Disease Parameters in Models of Proteotoxic CMT1B

Maurizio D’Antonio, PhD, Group Leader Biology of Myelin Unit, Ospedale San Raffaele

12:00 PM Lunch and Poster Viewing Session
12:50 PM Pathfinder Award Presentation
1:00 PM Gene Therapy Approaches for CMT

Moderator: Kathrin Meyer, PhD, Assistant Professor, Physical Medicine and Rehabilitation, University of Missouri School of Medicine and Chief Scientific Officer, Alcyone Therapeutics

Speakers:

Current Opportunities and Challenges for CMT Gene Therapies

Kleopas Kleopa, MD, PhD, FAAN, FEAN, Professor and Senior Neurologist, The Cyprus Institute of Neurology and Genetics

Supporting Translation of the CMT1A Gene Therapy Through AAV-Mediated Silencing of PMP22 in Mice and Non-Human Primates

Scott Harper, PhD, Principal investigator in the Center for Gene Therapy at the Abigail Wexner Research Institute, Nationwide Children’s Hospital

Development of a Knockdown and Replace Gene Therapy for CMT1B

Afrooz Rashnonejad, MSc, PhD, Principal investigator in the Center for Gene Therapy at the Abigail Wexner Research Institute, Nationwide Children’s Hospital

Development of Gene Replacement Therapy for CMT4A Demyelinating Neuropathy

Xin Chen, PhD, Assistant Professor, UT Southwestern Medical Center

The Development of Tissue Tropic AAVs – Considerations Inside Out

Guangping Gao, Principal Investigator, UMass Chan Medical School and Co-founder, Voyager Therapeutics

Developing Lipid Nanoparticles for non-Liver RNA Delivery

Ryan Zenhausern, PhD Candidate, Georgia Tech and Emory University

3:15 PM Break
3:30 PM Taking CMT Therapeutics to Clinical Trials

Moderator: Charles Abrams MD, PhD, Professor, Department of Neurology and Rehabilitation, University of Illinois, Chicago

Speakers:

Lessons Learned From ALS Clinical Development: Opportunities for CMT Drug Development

Toby Ferguson, MD, PhD, Chief Medical Officer, Voyager Therapeutics

Current Status of Clinical Outcome Assessments and Biomarkers in CMT

Brett McCray, MD, PhD, Assistant Professor in Neurology, University of Michigan

Govorestat for CMT-SORD: Designing a Clinical Trial for a Slow Progressing CMT

Riccardo Perfetti, MD, PhD, Chief Medical Officer, Applied Therapeutics

FDA Efforts to Advance Medical Product Development for Rare Diseases

Celia Witten, MD, PhD, Deputy Director, Center for Biologics Evaluation and Research, Food and Drug Administration

5:05 PM Break
5:15 PM CEO Panel: Understanding the Criteria for Pursuing a Drug Program for CMT

Moderator: Arthur Suckow, PhD, Founder of DTx Pharma

Panelists:

Gerhard Koenig, PhD, Executive Chairman, Augustine Therapeutics

Ilan Ganot, MBA, CEO, Alesta Therapeutics

David Goldstein, PhD, Co-Founder and CEO, Actio Biosciences

Tim Piser, PhD, Head of R&D, Samsara Therapeutics

Rachel Salzman, DVM, CEO, Armatus Bio

6:00 PM Patient Voices: How Your Scientific Progress Provides Hope

Adrienne Weinstein, Endgame Campaign Committee Member, CMTRF

6:10 PM Networking Reception

Complimentary Food and Beverages

Patient Community Day

Saturday, September 28th

7:45 AM Breakfast and Meet & Greet Stations
Meet The Ambassadors
Meet The Scientists
Meet The CMT Research Foundation Leadership Team
Research Resources for Newly Diagnosed
9:00 AM Opening: Patients Taking Action
Cleary Simpson, CEO, CMT Research Foundation
Peter deSilva, Board Chair, CMT Research Foundation
Jamal Hill, Paralympic Medalist and CMT Patient
9:20 AM: What is Happening to my Nerves and Body?
Bruce D. Carter, PhD, Professor of BiochemistryVanderbilt University
Introduced by Alexandre Hoyau, President, CMT France
10:00 AM: The State of Drug Development for CMT
Toby Ferguson, MD, PhD, Chief Medical Officer, Voyager Therapeutics
Robert Prior, PhD, Postdoctoral Researcher, University of Bonn, Germany
10:45 AM Break
11:05 AM Fueling Progress With ENDGAME – The Campaign to End CMT1A
Peter deSilva, Board and ENDGAME Campaign Chair, CMTRF
Susan Ruediger, Co-Founder and Chief Mission Officer, CMTRF
Riann Egusquiza, PhD, Director of Research, CMTRF
 
11:30 AM: Expediting CMT Research for all Types
CMTRF Scientific Team
12:05 PM Lunch
1:05 PM: You and the Future of Clinical Trials in CMT
Dottie Caplan, Senior Vice President of Patient Advocacy and Engagement, Applied Therapeutics
Martin Skov, PhD, Innovation Manager, NMD Pharma
Jenneen DiFiore, Executive Director of Neurology, PPD, a Division of Thermo Fisher Scientific 
Celia Witten, MD, PhD, Deputy Director, Center for Biologics Evaluation and Research, Food and Drug Administration
Introduced by Lily Sander, CMTRF Ambassador
2:35 PM: You Are UNSTOPPABLE
Chelsea Layton, Community Engagement Manager, CMTRF
Gary Berg, Ambassador, Zero-K Run
John Neville, Ambassador, England’s Highest Cricket Match
CMTRF Ambassadors
3:20 PM: Adjourn: Ice Cream Social