CMT Gait, Mobility, Balance - AOFAS Grant

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

The overall objective of the proposed research is to begin to better understand the potential benefits and limitations of ankle -foot orthosis (AFO) use in the context of mobility and balance during gait for individuals with Charcot-Marie-Tooth disease (CMT). These benefits will be studied in comparison to those offered by surgical correction. We will accomplish by having subjects undergo mobility and balance tests in our gait analysis lab.

Study Overview

• Status: Recruiting
• Conditions: Charcot Marie Tooth Disease (CMT)
• Intervention / Treatment: Device: Ankle-foot Orthoses

Detailed Description

Walking is an important daily activity that is compromised in individuals with neuromuscular conditions. Charcot-Marie-Tooth (CMT) disease is the most common form of inherited peripheral neuropathy, affecting 2.8 million people worldwide and 1 in 2500 in the United States. Amongst patients with CMT, impaired walking is the most significant contributor to reduced quality of life in patients with CMT. Furthermore, these gait deficits result in over 80% of individuals with CMT experiencing a fall or near fall event annually, primarily due to tripping and balance related issues. Ankle foot orthoses (AFOs) are commonly used by individuals with CMT, often with the intent of reducing the risk of falls and restoring a more normal gait pattern. However, AFOs are often bulky, uncomfortable, and can be destabilizing for already weak individuals. Surgical correction offers the advantage of improving limb alignment, reduces bulk, and the arduous nature of donning/doffing a brace. However, surgery is not without risk, potential complications, and post-operative recovery. Scientific evidence to help surgeons determine if an AFO or surgery are optimal for a given patient, especially in the setting of a brace-able foot, remains limited. Recent consensus among expert orthopaedic foot and ankle surgeons agrees that 'There is no evidence-based orthopedic studies to help determine optimal timing for surgery, and there is often contradictory advice from the patient's neurologist, physical therapist, and orthotist regarding the role of an operation. There is a critical need to understand how surgical correction affects mobility, balance confidence, and gait compared to AFO bracing in the native cavovarus foot (non-operatively treated). Without such information, the evidence-based approach to answering this critical question will likely remain unrealized.

• Study Type: Interventional
• Enrollment (Estimated): 66
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Bopha Chrea, MD; Phone Number: 319-356-3943; Email: bopha-chrea@uiowa.edu
• Study Contact Backup: Name: Lauren Crowe, BS; Phone Number: 319-467-7128; Email: lauren-n-crowe@uiowa.edu

Study Locations

• United States
  • Iowa
    • North Liberty, Iowa, United States, 52713
      • Recruiting
      • University of Iowa Medical Campus - North Liberty (MCNL)
      • Contact: Bopha Chrea, MD; Phone Number: 319-356-3943; Email: bopha-chrea@uiowa.edu
      • Contact: Jason Wilken, PT, PhD; Email: jason-wilken@uiowa.edu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria: 1) Clinical diagnosis and genetic confirmation of CMT, 2) Between the ages of 12 and 75, 3) Able to walk at a slow to moderate pace without an AFO, 3) Able to read and write in English and provide written informed consent. 4) Individuals in the NonOP group must have an AFO prescribed for daily activities. Individuals in the OP group will also have had 5) surgical correction of CMT cavovarus foot deformity focused on muscle balancing and hindfoot correction.

Exclusion Criteria: 1) Other causes or risk factors for peripheral neuropathy (for example diabetes, ETOH abuse), 2) Uncorrected visual impairment, 3) History of musculoskeletal injury requiring surgery 4) loss of plantar protective sensation 5) Pain >4/10 while walking (or an increase in pain during testing of >2/10), 6) Concern by the examiner that the individual will not complete the study. For the NonOP group 7) Previous surgical correction of CMT cavovarus foot deformity focused on muscle balancing and hindfoot correction

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Other
• Allocation: Non-Randomized
• Interventional Model: Crossover Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
No Intervention: OP; Charcot-Marie-Tooth patients who have undergone surgical correction but do not wear ankle-foot orthoses.
Other: NonOP; Charcot-Marie-Tooth patients who have not undergone surgical correction, but do wear clinically prescribed ankle-foot orthoses. NonOP subjects will complete study procedures both with and without their AFOs.	Device: Ankle-foot Orthoses; Group 1 will consist of individuals who have CMT and have undergone surgical correction (OP) and Group 2 will be AFO users who have CMT but have not undergone major surgical correction (NonOP).

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Four-Square Step Test	This test of functional mobility requires rapid stepping and changes in direction, that are often limited by lower limb pathology.	Baseline
Self-selected Walking Velocity	Participants will be instructed to walk at their "normal comfortable" pace for a 10 m distance. The time traveled between the 2 m mark and 8 m mark is recorded in seconds. Two trials will be completed with 15 seconds rest between trials.	Baseline
Activity Specific Balance Confidence Scale	The ABC is a well-established survey instrument to assess an individual participant's level of balance confidence during functional activities and takes approximately 3 minutes to complete.	Baseline
Falls Frequency Questionnaire	Survey asking participants the number of times they fell in the previous 24 hours and the previous week. Participants will also be asked to report the most circumstances most commonly associated with fall events.	Baseline
Lower Extremity Gait Biomechanics	Measurements include: toe clearance height and ankle dorsiflexion angle during swing, peak ankle plantar flexor moment, and peak ankle push off power.	Baseline

Collaborators and Investigators

• Sponsor: Bopha Chrea

Study record dates

Study Major Dates

• Study Start (Actual): August 14, 2025
• Primary Completion (Estimated): August 1, 2026
• Study Completion (Estimated): January 1, 2027

Study Registration Dates

• First Submitted: September 17, 2025
• First Submitted That Met QC Criteria: September 17, 2025
• First Posted (Estimated): September 23, 2025

Study Record Updates

• Last Update Posted (Estimated): September 23, 2025
• Last Update Submitted That Met QC Criteria: September 17, 2025
• Last Verified: September 1, 2025

More Information

Terms related to this study

• Keywords: Gait Biomechanics
• Additional Relevant MeSH Terms: Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Peripheral Nervous System Diseases; Neurodegenerative Diseases; Congenital Abnormalities; Heredodegenerative Disorders, Nervous System; Nervous System Malformations; Polyneuropathies; Hereditary Sensory and Motor Neuropathy; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Charcot-Marie-Tooth Disease
• Other Study ID Numbers: 202503402

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: Yes
• product manufactured in and exported from the U.S.: No