Agenda

September 16 & 17th
Cambridge, MA

Day 1

For Researchers

Friday, September 16th

Keynote Address
  • Dr. Chris Austin, founding director of NCATS and CEO of Flagship Pioneering.
Recent Developments in CMT Research (Year in Review)
  • Dr. Vera Fridman, University of Colorado
Metabolism and Axon Degeneration
  1. Metabolic coupling between myelinating Schwann cells and axons- Elisabetta Babetto, University at Buffalo
  2. SORD deficiency- Andrea Cortese, University College London
  3. Mitochondrial dysfunction and axon transport- Alexander Van Der Bliek, UCLA
  4. SARM1 in CMT1A- Kate Moss, Johns Hopkins University
Genetic Medicine
  1. Gene replacement therapy for inherited neuropathies- Rachel Bailey, UTSW
  2. ASOs for CMT1A
  3. CMT2S/SMARD1 clinical trial- Shibi Likhite, Nationwide Children’s Hospital
  4. Directed evolution for AAV targeting- Mohammadsharif Tabebordbar, Harvard University
Small Molecule Approaches
  1. Macrophages in demyelinating CMT- Rudolf Martini, University of Würzburg
  2. Modulating the unfolded protein response- Maurizio D’Antonio, San Raffaele Scientific Institute
  3. Mitofusin activators for CMT2A- Gerald Dorn, Washington University in St. Louis
  4. 4. PIKfyve inhibition for CMT4B1 and related neuropathies- Alessandra Bolino, San Raffaele Scientific Institute
  5. Enhancing autophagy for CMT1A- John Blackwood, Samsara Therapeutics
De-Risking Clinical Trials with Biomarkers
  1. Muscle fat fraction
  2. Neurofilament light
  3. An international collaboration to discover CMT biomarkers (NCAM1 and GDF15)- Matt Jennings, University of Cambridge

Day 2

For the CMT Patient Community

Saturday, September 17th

An Introduction to CMT and Drug Development

Dr. Keith Fargo, CMT Research Foundation

Dr. Fargo will open the day with a history of the science of CMT and how it’s created the momentum of drug development we see today. 
Natural History Studies and Why They're Important

Dr. David Herrmann, University of Rochester

Dr. Herrmann will discuss the most groundbreaking scales used to measure CMT and its progression.  He will discuss their relevance to clinical trials and why it is critical that patients participate. 

How Genes Cause CMT and Their Impact on Treatments and Cures

Drs. Marina Kennerson, Wolfgang Pernice, Jim Lupski, Vincent Timmerman,  Stephan Zuchner, Andrea Cortese, Tony Antonellis

Drs. Kennerson and Pernice will lead a discussion with the world’s leading CMT geneticists, including the two scientists who found the first CMT gene in 1991. 

Understanding Clinical Trials and How They're Designed
Melissa DuPont, Sanofi

Ms. DuPont is the patient engagement lead at one of the world's biggest pharmaceutical companies.  She will discuss how clinical trials are designed and how pharma need patient input.
Breakout Sessions
Small group discussions for each topic, led by key clinicians in CMT.  
  • CMT1A 
  • CMT1B 
  • CMT2A 
  • CMTX
  • Other types of CMT
  • Pediatric Considerations 
  • Bracing Considerations
  • Patients getting Involved 
 
Overview of Current & Upcoming CMT Clinical Trials

Dr. Mario Saporta, University of Miami  

Dr. Saporta will discuss the current clinical trials and their progress.  He will also share the planned clinical trials coming soon for CMT.  

Surge of Momentum from Biotechs

Dr. Paul August (Agios Pharmaceuticals), Dr. Arthur Suckow (DTx Pharma), Dr. Scott Harper (Armatus Bio), Dr. Thomas Pedersen (NMD Pharmaceuticals), Dr. Chris Lorson (Shift Pharma), Dr. Sylvain Celanire (Augustine Therapeutics)

Dr. August will lead a discussion with CEOs and scientists from biotechs working in CMT.  They’ll discuss why CMT is the next indication of interest for many companies and investors.

The Future of CMT Depends on Patients

Dr. Keith Fargo and Susan Ruediger will discuss how we, as a community, can continue to push the momentum of CMT into treatments and cures.  

Networking With the Speakers
The final hour of the day is dedicated to giving each attendee time to talk with the scientist who presented throughout the day.  Attendees will have one-on-one time to ask questions most relevant to them.  
Sunset Riverboat Cruise on the Charles River
Explore the beautiful Charles River with the team at the CMT Research Foundation and the speakers from the weekend.  This is a great opportunity to get to know everyone working in CMT personally.