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URochester Medicine / Center for Health + Technology / Our Expertise / CHeT Outcomes / CMT-HI: Charcot Marie Tooth Health Index

CMT-HI: Charcot Marie Tooth Health Index (Patient-reported Outcome)

Our CMT-HI: Charcot Marie Tooth Health Index is a rigorously developed patient-reported outcome (PRO) that reflects how individuals experience symptoms, functioning, and quality of life. It is used across clinical research and trials to generate meaningful, patient-centered data on disease burden and treatment effects.

  • Type of Clinical Outcome Assessment (COA): Patient-reported outcome measure (PRO)
  • Administration Mode: Self-administered
  • Therapeutic Area: Charcot Marie Tooth
  • Approximate Completion Time: <11 minutes
  • Required Supervision: None
  • Recall Period: Immediate point in time

Instrument Variations

  • The Charcot Marie Tooth Health Index Short Form (CMT-HI-SF)
    • CMT-HI Short Form Completion Time: Under 1 minute

Symptom Subscales

  • Number of Independently Validated Symptom Subscales: 18

Mobility; Foot & Ankle Function; Balance; Activity Participation; Hand & Finger Function; Shoulder & Arm Function; Sensation; Pain; Fatigue; Sleep; Emotional Health; Social Performance; Cognition; Heartburn; Constipation; Hearing; Breathing; Swallowing Function

Instrument Attributes

  • The CMT-HI is a patient-reported outcome (PRO) measure designed to assess symptoms and health-related quality-of-life from the perspective of patients with charcot marie tooth.
  • Designed and validated to fully satisfy regulatory and published FDA guidance for use in drug-labeling claims and measuring changes in how a patient feels and functions.
  • The CMT-HI is a fully valid, reliable, responsive, and disease-specific instrument capable of measuring changes in patient-reported health in patients with charcot marie tooth.
  • The instrument was developed using extensive patient input, including an analysis of 656 patient quotes and a large cross-sectional study involving 407 patients.
  • The CMT-HI is highly relevant to patients, has low patient burden, correlates with markers of disease severity, and demonstrates low floor and no ceiling effects.
  • eCOA Implementation Guide available.
  • English (US)
  • English (AU)
  • English (UK)
  • Chinese (China)
  • Czech (Czech Republic)
  • Danish (Denmark)
  • Dutch (Netherlands)
  • Dutch (Belgium)
  • French (France)
  • French (Belgium)
  • German (Belgium)
  • German (DE)
  • Italian (Italy)
  • Spanish (Spain)
  • Spanish (US)
  • Turkish (TR)

Additional translations available upon request.

  • Johnson, NE, Heatwole CR, Ferguson M, Sowden, JE, Jeanat S, Herrmann. Patient Identification of the Symptomatic Impact of Charcot Marie Tooth Disease Type 1A. Journal of Clinical Neuromuscular Disease. 2013 Sep; 15(1):19-23
  • Johnson NE, Heatwole C, Creigh P, McDermott MP, Dilek N, Hung M, Bounsanga J, Tang W, Shy ME, Herrmann DN. The Charcot-Marie-Tooth Health Index: Evaluation of a Patient-Reported Outcome. Ann Neurol. 2018 Aug;84(2):225-233
  • Johnson, NE, Heatwole CR, Dilek N, Sowden J, Kirk CA, Shereff D, Shy ME, Herrmann DN. Quality of life in Charcot Marie Tooth Disease: The patient’s perspective. Neuromuscular Disorders. 2014 Nov;24(11):1018-23
  • Pisciotta C, Ciafaloni E, Zuccarino R, Calabrese D, Saveri P, Fenu S, Tramacere I, Genovese F, Dilek N, Johnson N, Heatwole C, Herrmann D, Pareyson D. Validation of the Italian version of the Charcot-Marie-Tooth Health Index (CMT-HI). Journal of the Peripheral Nervous System.
  • T. Rehbein,  J. Purks,  N. Dilek,  S. Behrens-Spraggins,  J. E. Sowden,  K. J. Eichinger,  the ACT-CMT Study Group ,  J. Burns,  D. Pareyson,  S. S. Scherer,  M. M. Reilly,  M. E. Shy,  M. P. McDermott,  C. R. Heatwole,  D. N. Herrmann. Patient-reported disease burden in the Accelerate Clinical Trials in Charcot–Marie–Tooth Disease Study. J Peripher Nerv Syst. 2024; 1-7. doi:10.1111/jns.12662.
  • C. K. Abrams, S. Bruhn, J. Burns, et al., "Clinical Development of Therapies for Charcot–Marie–Tooth Disease: Recommendations for Trial Design, Endpoints, and Regulatory Pathways," Journal of the Peripheral Nervous System 31, no. 3 (2026): e70146, https://doi.org/10.1111/jns.70146.
  • “Symptomatic Impact of Charcot Marie Tooth Disease.” N Johnson, C Heatwole, J Sowden, N Dilek, D Herrmann.  The Muscle Study Group.  Oxford, UK. 9/13. Muscle and Nerve. September 2013 48:S1. S1.
  • "CMT-HI Upper Limb Subscale Scores Respond to Treatment With Govorestat in Patients With CMT-SORD." E Bailey, C Heatwole, J Luth, C Summers, S Dickson, C Dayley, M Shy. American Academy of Neurology Annual Meeting. Chicago, IL. April 18-22, 2026.

This list includes studies made available to the public on ClinicalTrials.gov. Please note that this list does not fully cover academic and industry studies that use Health Indexes.

NCT Number - NCT06482437
Study Title - Safety and Efficacy of NMD670 in Adult Patients With Type 1 and Type 2 Charcot-Marie-Tooth Disease (SYNAPSE-CMT)
Study URL - https://clinicaltrials.gov/study/NCT06482437
Condition - Charcot-Marie-Tooth disease type 1 and type 2
Sponsor - NMD Pharma A/S
Intervention - Drug: NMD670 | Drug: Placebo

NCT Number - NCT07191912
Study Title - Confirmatory Study of Govorestat in CMT-SORD
Study URL - https://clinicaltrials.gov/study/NCT07191912
Condition - Charcot-Marie-Tooth Disease With Sorbitol Dehydrogenase Deficiency (CMT-SORD)
Sponsor - Applied Therapeutics, Inc.
Intervention - Drug: Govorestat | Drug: Placebo Control

NCT Number - NCT03943290
Study Title - Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) and Charcot-Marie Tooth (CMT) Disease Types 1 and X (CMT1 and CMTX)
Study URL - https://clinicaltrials.gov/study/NCT03943290
Conditions - Facioscapulohumeral Muscular Dystrophy, Charcot-Marie-Tooth Disease
Sponsor - Acceleron Pharma, Inc., a wholly-owned subsidiary of Merck & Co., Inc., Rahway, NJ USA (Responsible Party)
Intervention - Drug: ACE-083

NCT Number - NCT03124459
Study Title - Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease
Study URL - https://clinicaltrials.gov/study/NCT03124459
Condition - Charcot-Marie-Tooth Disease
Sponsor - Acceleron Pharma, Inc., a wholly-owned subsidiary of Merck & Co., Inc., Rahway, NJ USA (Responsible Party)
Intervention - Drug: ACE-083 | Drug: Placebo

Instrument Scoring

All subscales are scored on a scale of 0 to 100 with 0 representing no disease burden and 100 representing the maximum level of disease burden. Symptom questions within each subscale are weighted based on participant-reported prevalence and average impact as identified through the cross-sectional study. Subscale scores are also weighted to generate a total CMT-HI score (0-100) representing overall disease burden.


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