Patient / Family Conferences

SAVE THE DATE: 2022 CMT Patient & Research Summit (in-person and virtual) October 1, 2022 in Bethesda, Maryland

Our 20th Annual CMTA Patient/Family Conference provided the community with informative updates from our researchers, biotech partners and members of our STAR advisory board plus patient-focused clinicians shared helpful resources for patients and their families.

2021 PFC Conference Recordings

2021 PFC Recorded Video
    • Welcome Address presented by Amy Gray, CEO, CMTA

      2021 Welcome Address

      “Welcome Address” presented by Amy Gray, CEO, CMTA

    • Newly Diagnosed? What Now? presented by Dr. Michael Shy, Director, Division of Neuromuscular Medicine, Neurology/University of Iowa

      Newly Diagnosed? What Now?

      “Newly Diagnosed? What Now?” presented by Dr. Michael Shy, Director, Division of Neuromuscular Medicine, Neurology/University of Iowa

      Neurologist Dr. Michael Shy shares an overview of CMT for newly diagnosed patients and provides informative insights on the next steps in the journey for those who are newly diagnosed.
    • Disease Management presented by Dr. John Day

      2021 Disease Management

      “Disease Management” presented by Dr. John Day

      Neurologist Dr. Day addresses pain management issues related to CMT, shares information on how you know you’re seeing the right type of neurologist and provides helpful strategies for slowing disease progression.
    • Genetic Testing: to test or not to test? presented by Carly Siskind, MS, CGC

      Genetic Testing

      “Genetic Testing: To Test or Not to Test?” presented by Carly Siskind, MS, CGC

      Carly Siskind shares detailed information on the genetic testing process and who should be tested. Carly also provides CMT inheritance patterns and options for family planning.
    • CMT Surgical Results presented by Dr. Glenn Pfeffer

      CMT Surgical Results

      “CMT Surgical Results” presented by Dr. Glenn Pfeffer

      Dr. Pfeffer shares surgical outcomes for CMT-related foot and ankle surgeries and discusses when surgical intervention is needed and when it is not.
    • Bracing and AFO’s – Do I need braces? presented by Ken Cornell, CO

      Bracing and AFOs

      “Bracing and AFO’s – Do I need braces?” presented by Ken Cornell, CO

      Ken Cornell provides the latest and greatest bracing options for CMT patients as well as shares the importance of a healthy gait in order to avoid long-term issues.
    • CMT and Breathing presented by Dr. Ashraf Elsayegh

      CMT and Breathing

      “CMT and Breathing” presented by Dr. Ashraf Elsayegh

      Dr. Elsayegh shares information on CMT-related breathing issues as well as sleep apnea and discusses the best options for CPAP and BiPAP devices.
    • CMT-STAR Research Update Introduction presented by Gilles Bouchard

      CMTA-STAR Research Update Introduction

      “CMT-STAR Research Update Introduction ” presented by Gilles Bouchard

    • CMTA-STAR Research Update – Type 1A presented by John Svaren, PhD

      CMTA-STAR Update - 1A

      “CMTA-STAR Research Update – Type 1A” presented by John Svaren, PhD

    • CMTA-STAR Research Update – Type 1B, 1X, Type 1s presented by Dr. Michael Shy

      CMTA-STAR Research Update - Type 1B, 1X, Type 1s

      “CMTA-STAR Research Update – Type 1B, 1X, Type 1s” presented by Dr. Michael Shy

    • CMTA-STAR Research Update – Type 2A, 2E, 2F, Type 2s presented by Dr. Steven Scherer

      CMTA-STAR Research Update - Type 2A, 2E, 2F, Type 2s

      “CMTA-STAR Research Update – Type 2A, 2E, 2F, Type 2s” presented by Dr. Steven Scherer

    • CMTA-STAR Research Update – VUS, SORD, Unknown Types presented by Dr. Stephan Züchner

      CMTA-STAR Research Update - VUS, SORD, Unknown Types

      “CMTA-STAR Research Update – VUS, SORD, Unknown Types” presented by Dr. Stephan Züchner

    • CMTA-STAR Research Update – Type 4 and HNPP presented by Dr. Jun Li

      CMTA-STAR Research Update - Type 4 and HNPP

      “CMTA-STAR Research Update – Type 4 and HNPP” presented by Dr. Jun Li

    • CMTA-STAR Gene Therapy/Drug Development Update – Type 1 moderated by John Svaren, PhD

      CMTA-STAR Gene Therapy/Drug Development Update - Type 1

      “CMTA-STAR Gene Therapy/Drug Development Update – Type 1”

      This session was moderated by John Svaren, PhD and panelists included: Dr. Kleopas Kleopa (Cypress Institute of Neuro and Genetics), Mark Scheideler (HumanFirst Therapeutics), and Maurizio D’Antonio, PhD (San Raffaele Scientific Institute).
    • CMTA-STAR Gene Therapy/Drug Development Update – Type 2 moderated by Dr. Steven Scherer

      CMTA-STAR Gene Therapy/Drug Development Update - Type 2

      “CMTA-STAR Gene Therapy/Drug Development Update – Type 2”

      This session was moderated by Dr. Steven Scherer and panelists included: Dr. Jim Wilson (UPENN), Dr. Luke Judge (UCSF/Gladstone Inst.), and Robert Burgess, PhD (The Jackson Laboratory).
    • CMTA-STAR Gene Therapy/Drug Development Update – Type 4 moderated by Dr. Michael Shy

      CMTA-STAR Gene Therapy/Drug Development Update - Type 4

      “CMTA-STAR Gene Therapy/Drug Development Update – Type 4”

      This session was moderated by Dr. Michael Shy and panelists included: Dr. Jun Li (Wayne State Univ.), Alessandra Bolino, PhD. (IRCCS Ospedale San Raffaele), and Dr. Kleopas Kleopa (Cypress Institute of Neuro and Genetics).
    • CMTA-STAR Biotech Panel Discussion moderated by Tom Dubensky, PhD

      CMTA-STAR Biotech Panel Discussion

      “CMTA-STAR Biotech Panel Discussion”

      This session was moderated by Tom Dubensky, PhD and panelists included: Dr. David Solomon (Pharnext), Shoshana Shendelman, PhD (Applied Therapeutics), Dr. Suyash Prasad (Taysha Gene Therapies) and Dr. Mark Forman (PassageBio).
 

2020 PFC Conference Recordings

2020 PFC Recorded Video
    • Zoom icon

      STAR Research Update (Demyelinating Types 1, 4 and X) presented by Gilles Bouchard, Chair, CMTA Board of Directors

      2020 PFC STAR Research Update - Demyelinating CMT Types

      “STAR Research Update (Demyelinating Types 1, 4 and X)” presented by Gilles Bouchard, Chair, CMTA Board of Directors

      This is an in-depth STAR research update led by CMTA Board Chair Gilles Bouchard and accompanied by CMT scientists and researchers Drs. Svaren, Kleopa, Scherer and Züchner. They share a detailed presentation about the CMTA’s STAR research program and also provide updates on the studies being done on CMT by type. To learn more about research on the demyelinating types of CMT, visit: www.cmtausa.org/our-research/for-patients-and-families/cmta-star-research-for-demyelinating-cmt/

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    • Zoom icon

      STAR Research Update (Axonal Type 2 and Unknown Variants) presented by Gilles Bouchard, Chair, CMTA Board of Directors

      2020 PFC STAR Research Update - Axonal CMT Types

      “STAR Research Update (Axonal Type 2 and Unknown Variants)” presented by Gilles Bouchard, Chair, CMTA Board of Directors

      This is an in-depth STAR research update led by CMTA Board Chair Gilles Bouchard and accompanied by CMT scientists and researchers Drs. Svaren, Kleopa, Scherer and Züchner. They share a detailed presentation about the CMTA’s STAR research program and also provide updates on the studies being done on CMT by type. To learn more about research on the axonal types of CMT, visit: www.cmtausa.org/our-research/for-patients-and-families/cmta-star-research-for-axonal-cmt/

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    • Zoom icon

      Adult Neurology/Genetics presented by Dr. Steven Scherer and Tanya Bardakjian

      2020 PFC Adult Neurology/Genetics

      “Adult Neurology/Genetics” presented by Dr. Steven Scherer and Tanya Bardakjian

      CMTA Center of Excellence (UPENN) neurologist Dr. Steven Scherer gives an in-depth presentation on what CMT is, the diagnostic process, CMT types/subtypes, as well as possible treatment approaches for the most common types of CMT. Genetic counselor Tanya Bardakjian shares information on the genetic mutations associated with CMT, genetic testing, inheritance patterns, and much more. For more information on genetic testing, visit: www.cmtausa.org/living-with-cmt/find-help/genetic-testing

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    • Zoom icon

      Pediatric Neurology/Genetics presented by Dr. Alexander Fay and Matt Hall

      2020 PFC Pediatric Neurology/Genetics

      “Pediatric Neurology/Genetics” presented by Dr. Alexander Fay and Matt Hall

      CMTA Center of Excellence (UCSF) neurologist Dr. Alexander Fay gives an in-depth presentation on what CMT is, the early diagnostic process, managing CMT, and current research happening at UCSF. Genetic counselor Matt Hall shares information on the genetic mutations associated with CMT, genetic testing, inheritance patterns, and much more. For more information on genetic testing, visit: www.cmtausa.org/living-with-cmt/find-help/genetic-testing

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    • Zoom icon

      Fireside Chat/Get Involved presented by Laurel Richardson and Jeana Sweeney

      2020 PFC Fireside Chat/Get Involved

      “Fireside Chat/Get Involved” presented by Laurel Richardson and Jeana Sweeney

      Two CMTA staff members, Laurel Richardson/Director of Community Outreach and Jeana Sweeney/Director of Development, share great information in this session about staying connected to and getting involved with the CMTA. It’s a fun conversation among colleagues and great information is shared. To stay connected to the CMTA, be sure to sign up for eNews here: www.cmtausa.org/enews

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    • Zoom icon

      Physical Therapy and CMT presented by Stephanie Poelker

      2020 PFC Physical Therapy and CMT

      “Physical Therapy and CMT” presented by Stephanie Poelker

      Stephanie Poelker, a physical therapist from the CMTA Center of Excellence at Washington University, gives a presentation on physical therapy as it relates to CMT. She talks about how CMT affects CMT patients and the importance of stretching and exercise, and she shares ideas on great ways for CMT to keep moving with low impact. For more information on physical therapy, visit: www.cmtausa.org/living-with-cmt/managing-cmt/a-guide-to-physical-and-occupational-therapy-for-cmt/

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    • Zoom icon

      Emotional Wellness and CMT presented by David Tannenbaum

      2020 PFC Emotional Wellness and CMT

      “Emotional Wellness and CMT” presented by David Tannenbaum

      Psychotherapist and fellow CMTer David Tannenbaum discusses the importance of maintaining emotional wellness and provides coping strategies for doing so. He also talks about getting to the root of fear and anxiety that is often prevalent in a chronic illness. To join the online Emotional Support Group led by David Tannenbaum, visit: www.cmtausa.org/emotional-support-group

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    • Zoom icon

      Orthotics/Bracing for CMT presented by Ken Cornell

      2020 PFC Orthotics/Bracing for CMT

      “Orthotics/Bracing for CMT” presented by Ken Cornell

      Ken Cornell, an orthotist from the CMTA Center of Excellence in Boston at Mass General, shares a fantastic presentation on bracing for CMT patients. He stresses the importance of having braces that work for you and provides excellent information on the different options for bracing. To learn more about bracing, visit: www.cmtausa.org/living-with-cmt/managing-cmt/bracing

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    • Zoom icon

      Staying Active with CMTA presented by Elizabeth Ouellette

      2020 PFC Staying Active with CMTA

      “Staying Active with CMTA” presented by Elizabeth Ouellette

      Patient advocate and CMTA Board Member Elizabeth Ouellette gives a great presentation on the importance of staying active with CMT. She shares many wonderful ideas and leads the participants of this session through an open discussion about what it means to be CMT active. For more information on exercise and CMT, visit: www.cmtausa.org/living-with-cmt/managing-cmt/exercise/therapies-for-inherited-neuropathies

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    • Zoom icon

      Youth Movement, Positivity and Purpose presented by Jonah Berger

      2020 PFC Youth Movement, Positivity and Purpose

      “Youth Movement, Positivity and Purpose” presented by Jonah Berger

      This is a fun and informative session with Jonah Berger, National Youth Programs Manger for the CMTA. Jonah shares information about Youth Programs, Camp Footprint, and living a full and purposeful life with CMT. To learn more about CMTA Youth Programs, visit: www.cmtausa.org/get-involved/cmta-youth-program

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Featured Video: “Braces vs. Surgery” with Dr. Glenn Pfeffer

Glenn Pfeffer, MD, is the Director of the Foot and Ankle Center at Cedars-Sinai Medical Center, Los Angeles. He is also a Co-Director of the Hereditary Neuropathy Program and Co-Director of the Cedars-Sinai/USC Glorya Kaufman Dance Medicine Center. Dr. Pfeffer has written numerous scientific articles on orthopaedics and has edited seven academic textbooks on the foot and ankle. He has been treating foot and ankle problems in patients with Charcot-Marie-Tooth disease for 25 years. He is a past president of the American Orthopaedic Foot and Ankle Society, and recently served as president of the California Orthopaedic Association. Dr. Pfeffer is frequently interviewed on foot and ankle topics, and has been featured on CNN, Dancing with the Stars, Dateline NBC, Good morning America, and in The New York Times.

More from the 2018 Seattle PFC…

Visit the CMTA’s YouTube channel to watch any or all of the conference videos: Seattle PFC Playlist Download the full agenda with presenter bios: 2018_Seattle_PFC_Agenda.pdf (434 downloads)

Featured Video: “Overcoming Obstacles in Clinical Trials of CMT” with Dr. Vera Fridman

Dr. Vera Fridman is the co-director of the CMT Center of Excellence at Massachusetts General Hospital. Dr.Fridman completed her neurology training at the University of Pennsylvania and her neuromuscular fellowship at Massachusetts General and Brigham and Women’s hospitals. She subspecializes in both neuromuscular medicine and electrophysiology, and sees patients with a variety of neuromuscular conditions. Dr. Fridman has a strong clinical and research interest in inherited neuropathies, including CMT. Following her neuromuscular training, Dr. Fridman pursued a fellowship through the Inherited Neuropathies Consortium, which allowed her to gain experience in the multi-disciplinary care of patients with hereditary nerve diseases. Since 2013, she has been working to build the CMT Center of Excellence at MGH. Her research focus has been on identifying better ways to measure clinical progression in inherited neuropathies.

More from the 2015 Boston PFC…

Visit the CMTA’s YouTube channel to watch any or all of the conference videos: Boston PFC Playlist Download the full agenda with presenter bios: 2015_Boston_PFC_Agenda.pdf (407 downloads)

Featured Video: “CMT Research Updates” with Dr. John Svaren

Dr. John Svaren is an Associate Professor in the Department of Comparative Biosciences at the University of Wisconsin, and he serves as Director of the Cellular and Molecular Neuroscience core at the UW Waisman Center, where his laboratory is located. Since 2000, he has focused his research program on the genetic basis of peripheral myelination and the disruptions found in peripheral neuropathies such as CMT. Dr. Svaren is working with the CMTA to lead one arm of the collaboraive STAR project, which is focused on understanding the regulation of the PMP22 gene in order to develop novel assays for drug screening at the NIH. Although his primary focus has been on CMT1A, he welcomes the opportunity to help develop and implement a multi-front strategy directed at other forms of CMT.

More from the 2015 Dallas STAR Update…

Visit the CMTA’s YouTube channel to watch any or all of the STAR Update videos: Dallas STAR Update Playlist Download the full agenda with presenter bios: 2015_Dallas_STAR_Update.pdf (388 downloads)

Featured Video: “The Joys of CMT; Choosing Life on the Bright Side” with Jonah Berger

Jonah Berger is 42 years old and lives in Colorful Colorado. He runs a business called The Rhythm Within, working with kids and adults with special needs. He has been diagnosed with CMTX and has enjoyed an interesting journey of challenge and wisdom.

More from the 2014 Stanford PFC…

Visit the CMTA’s YouTube channel to watch any or all of the conference videos: Stanford PFC Playlist Download the full agenda with presenter bios: 2014_Stanford_PFC_Agenda.pdf (376 downloads)

Featured Video: “A Step in the Right Direction” with Dr. Glenn Pfeffer

Dr. Pfeffer is the Director of the Foot and Ankle Center at Cedars-Sinai and Co-Director of the Hereditary Neuropathy Program. Dr. Pfeffer has written numerous scientific articles on orthopaedics, and he has been treating foot and ankle problems in patients with Charcot-Marie-Tooth disease for 25 years.

More from the 2014 Cedars-Sinai PFC…

Visit the CMTA’s YouTube channel to watch any or all of the conference videos: Cedars-Sinai PFC Playlist Download the full agenda with presenter bios: 2014_Cedars-Sinai_PFC_Agenda.pdf (381 downloads)

Featured Video: “Diagnosing and Managing CMT” with Michael E. Shy, MD

Dr. Shy is Director of the CMT Clinic and Co-Director of the Neuromuscular Program at the University of Iowa. Dr. Shy joined the University of Iowa Health Care team in 2012, moving from Wayne State University, where he developed and ran a CMT clinic for 17 years. He has published extensively on inherited disorders of the peripheral nervous system, and he is a member of the CMTA’s STAR Advisory Board.

More from the 2013 Orlando PFC…

Visit the CMTA’s YouTube channel to watch any or all of the conference videos: Orlando PFC Playlist Download the full agenda with presenter bios: 2013_Orlando_PFC_Agenda.pdf (389 downloads)