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CMTA Patients as Partners Opportunities

EMPOWER: Measuring Neurological Disease via Mobile Phone

Project announced: March 4, 2026
Updated: April 6, 2026
Current tools for monitoring CMT often require clinic consultations and struggle to detect meaningful short-term changes. This can delay treatment decisions and means that trials testing new therapies often need to run for multiple years before delivering results. The EMPOWER study is testing a mobile phone-based assessment tool—MoveMed—that uses short interactive games and passive phoneContinue reading "EMPOWER: Measuring Neurological Disease via Mobile Phone"
Mark Kotter wearing rectangular glasses and a light blue shirt, outdoors with lush greenery in the background, a professional portrait

Principal Investigator

Mark Kotter, MPhil, PhD
University of Cambridge

CMT Types

  • All

Active

Lower Extremity Gait, Mobility and Balance Confidence in Charcot-Marie-Tooth Patients with Cavovarus Foot Deformity

Project announced: February 9, 2026
CMT can include problems such as cavovarus foot deformity, footdrop, and sensory changes. These impairments result in altered gait and balance deficits. AFOs are commonly prescribed to individuals with CMT, however there is little accepted guidance on when to prescribe AFOs to people with CMT. Additionally, the biomechanical outcomes of surgical treatment to correct cavovarusContinue reading "Lower Extremity Gait, Mobility and Balance Confidence in Charcot-Marie-Tooth Patients with Cavovarus Foot Deformity"
Ms. Chrea

Principal Investigator

Bopha Chrea, MD
University of Iowa
University of Iowa

CMT Types

  • All

Active

A First in Human Study to Assess the Safety, Tolerability, and Pharmacokinetics of EDK060 in Adults With CMT1A – (CANADA ONLY)

Project announced: February 4, 2026
Updated: February 5, 2026
About this Study The purpose of this study is to characterize the safety, tolerability, and pharmacokinetics of EDK060 as compared to placebo in adult patients with CMT1A. Who Can Participate? Inclusion Criteria: Exclusion Criteria: Other protocol-defined inclusion/exclusion criteria may apply Worldwide Contacts If the location of your choosing does not feature any contact detail, pleaseContinue reading "A First in Human Study to Assess the Safety, Tolerability, and Pharmacokinetics of EDK060 in Adults With CMT1A – (CANADA ONLY)"

Principal Investigator

Norvartis
Novartis
Novartis Pharmaceuticals

CMT Types

  • CMT1
    • CMT1A (Gene: PMP22)

Therapy Type

Phase 1

Active

The Effects of Genetic Counseling on Life Outlook Attitudes and Family Planning in CMT Patients

Project announced: December 23, 2025
Updated: March 4, 2026
Genetic counseling plays a vital role in the rare disease community and is making its way to all corners of medicine. Genetic counseling is a growing field that is not well recognized across all medical specialties. It is vital to report where the gap in knowledge of genetic counseling is coming from – the lackContinue reading "The Effects of Genetic Counseling on Life Outlook Attitudes and Family Planning in CMT Patients"

Principal Investigator

Miranda Keith
University of Iowa
University of Iowa

CMT Types

  • All

Therapy Type

Patient Perspective

Active

Novartis 1A – Patient Lived Experience Project

Project announced: November 14, 2025
Updated: February 4, 2026
About this study Share your experiences with Charcot-Marie-Tooth disease type 1A (CMT1A) in an online survey and invited phone interview. This market research survey aims to better understand the diagnostic journey and treatment experiences of individuals diagnosed with CMT1A. This survey is being conducted by Engage Health on behalf of Novartis. Eligibility To be eligible,Continue reading "Novartis 1A – Patient Lived Experience Project"
Novartis

Principal Investigator

Novartis
Novartis
Novartis

CMT Types

  • CMT1
    • CMT1A (Gene: PMP22)

Therapy Type

Patient Perspective

Completed

Charcot-Marie-Tooth disease Infant Scale: INC Research Study 6611

Project announced: August 22, 2025
Updated: August 29, 2025
The Charcot-Marie-Tooth Association (CMTA), through its strategic alliance with the Inherited Neuropathy Consortium (INC), is proud to share this important opportunity for families living with Charcot-Marie-Tooth disease (CMT). This observational study, led by INC, aims to develop and validate the Charcot-Marie-Tooth Infant Scale (CMTInfS) to assess disease severity in infants and toddlers. Research suggests thatContinue reading "Charcot-Marie-Tooth disease Infant Scale: INC Research Study 6611"
CMTA | STAR

Principal Investigator

Inherited Neuropathy Consortium
Inherited Neuropathy Consortium
Various CMTA Centers of Excellence

CMT Types

  • All
  • CMT1
  • CMT2
  • CMT4
  • CMTX
  • Uncategorized Subtypes
    • CMT-RFC1 (aka CANVAS) (Gene: RFC1)
    • CMT-SORD (aka Sorbitol Dehydrogenase Deficiency) (Gene: SORD)

Active

Development of CMTPedS Scale for Children with CMT: INC Research Study 6603

Project announced: August 22, 2025
Updated: August 29, 2025
The Charcot-Marie-Tooth Association (CMTA), through its strategic alliance with the Inherited Neuropathy Consortium (INC), is proud to share this important opportunity for families living with Charcot-Marie-Tooth disease (CMT). This longitudinal study, led by INC, aims to refine the Charcot-Marie-Tooth Pediatric Scale (CMTPedS). Information about how different forms of CMT affect children is not readily availableContinue reading "Development of CMTPedS Scale for Children with CMT: INC Research Study 6603"
CMTA | STAR

Principal Investigator

Inherited Neuropathy Consortium
INC logo featuring a circular black-and-white emblem with a stylized figure and the bold text 'Inherited Neuropathy Consortium' to the right, conveying the INC brand identity.
Various CMTA Centers of Excellence

CMT Types

  • All
  • CMT1
  • CMT2
  • CMT4

Active

Research Project: CMT Subtype Biomarkers and Outcome Measures Study for CMT Types 2A, 2F, 1B and X1 (aka CT1X/CMTX)

Project announced: August 22, 2025
Updated: August 28, 2025
Dear Patients and Families affected by Charcot Marie Tooth Disease Type 2A, 2F, 1B and X, We wanted to reach out to you about your possible participation in a research project funded by the Charcot Marie Tooth Association called CMT Subtype Biomarkers and Outcome Measures. The three sites in the United States involved with thisContinue reading "Research Project: CMT Subtype Biomarkers and Outcome Measures Study for CMT Types 2A, 2F, 1B and X1 (aka CT1X/CMTX)"
Michael Shy

Principal Investigator

Dr. Michael Shy
University of Iowa Hospitals & Clinics - University of Iowa Health Care
University of Iowa

CMT Types

  • CMT1
    • CMT1B (Gene: MPZ)
  • CMT2
    • CMT2A (aka CMT2A1, CMT2A2, CMT2A2A) (Gene: MFN2/KIF1B)
    • CMT2F (Gene: HSPB1)
    • CMT2FF (Gene: CADM3)
  • CMTX

Active

Stanford Chronic Pain Study

Project announced: August 22, 2025
Updated: August 28, 2025
A Stanford research team needs feedback from patient advisors to make their five-year study welcoming for all patients living with chronic pain. They are gathering a group of people who have had chronic pain for 3 months or longer, either presently or in the past, or cared for others with chronic pain to join thisContinue reading "Stanford Chronic Pain Study"
Stanford Medicine logo

Principal Investigator

Stanford Medicine
Stanford Medicine logo
Stanford University - Division of Pain Medicine

CMT Types

  • All

Active

Evaluation of Changes on Gait in Children and Youth with CMT

Project announced: August 20, 2025
Updated: August 28, 2025
The Center for Motion Analysis at Connecticut Children’s Medical Center has opened a new research study to evaluate changes on gait (walking) over time in children and youth with Charcot-Marie-Tooth Disease. Study Methods Each visit to the Center for Motion Analysis (minimum of one visit required, may take up to 3.5 hours) will include aContinue reading "Evaluation of Changes on Gait in Children and Youth with CMT"
Sylvia Õunpuu wearing pink-framed glasses and a bright green shirt, smiling gently at the camera against a solid dark blue backdrop in a studio portrait.

Principal Investigator

Sylvia Õunpuu, MSc
Connecticut Children's Medical Center logo featuring a multicolored cross with teal circle on top, red left arm, yellow center, purple right arm, and a blue square below, plus bold purple text
Connecticut Children's Medical Center · Center for Motion Analysis

CMT Types

  • All

Completed

Simply CMT