Effects of Resistance Exercises in Hereditary Sensory-Motor Neuropathy (Charcot-Marie-Tooth Disease)

NCT07152197 | Recruiting

• 1 other identifier: 054/25
• Study Type: interventional
• Target: 22
• Locations: 1 country
• Sites: 2

Brief Summary

The goal of this clinical trial is to compare the effects of an 8-week resistance exercise training program on skeletal muscle quality, functional capacity, and quality of life in young individuals aged 15 to 29 years, with and without Hereditary Sensorimotor Polyneuropathy (HSPN). The main questions to answer are: What is the effect of an 8-week resistance exercise training program on skeletal muscle quality, functional capacity, and quality of life in young individuals with and without HSPN? Will the percentage of improvement after the program be greater in participants with HSPN compared to those without, due to greater baseline alterations? Researchers will compare the resistance exercise training program with baseline conditions to determine its effectiveness in improving skeletal muscle quality, functional capacity, and quality of life. Participants will undergo a supervised lower-limb resistance exercise program (3x/week) for 8 weeks. The intervention will include progressive loads from 60% to 80% of 1-Repetition Maximum (1RM), with exercises targeting the major lower limb muscle groups. All participants will complete pre- and post-intervention evaluations, including ultrasound assessment of muscle architecture, functional capacity tests, strength measurements, body composition analysis, and quality of life questionnaires.

Conditions

Polyneuropathy; Charcot Marie Tooth Disease (CMT)

Keywords

Charcot Marie Tooth Disease (CMT); Resistance Training; Muscle Quality; Quality of Life

Outcome Measures

Primary Outcomes (2)

• Changes in muscle echogenicity as marker of muscle quality

  .Echogenicity of the tibialis anterior muscle in both lower limbs will be assessed using ultrasonography (GE Logiq e BT11, 10-MHz linear transducer) by an experienced examiner. Participants will be seated with knees flexed and feet supported; the head of the fibula and lateral malleolus will serve as reference points. Echointensity will be analyzed in ImageJ from transverse images, excluding bone and fascia, and expressed as 0-255 A.U.

  The evaluation will be conducted twice, before and after the 8-week intervention: the first, 2 days after signing the informed consent, and the second, 2 days after completing the treatment.

• Changes in muscle thickness as marker of muscle quality

  Muscle thickness of the tibialis anterior muscle in both lower limbs will be assessed using ultrasonography (GE Logiq e BT11, 10-MHz linear transducer). Participants will be seated with knees flexed and feet supported; the head of the fibula and the lateral malleolus will serve as anatomical reference points. Muscle thickness will be defined as the orthogonal distance between the superficial and deep aponeuroses, measured at the midpoint of the transverse ultrasonographic image expressed in millimeters (mm).

  The evaluation will be conducted twice, before and after the 8-week intervention: the first, 2 days after signing the informed consent, and the second, 2 days after completing the treatment.

Secondary Outcomes (15)

• Changes in muscle architecture through ultrasonographic evaluation (fascicle length and pennation angle)

  The evaluation will be conducted twice, before and after the 8-week intervention: the first, 2 days after signing the informed consent, and the second, 2 days after completing the treatment.

• Serum creatine kinase concentration as a biomarker of muscle quality.

  The evaluation will be conducted twice, before and after the 8-week intervention: the first, 2 days after signing the informed consent, and the second, 2 days after completing the treatment.

• Changes in total body mass

  The evaluation will be conducted twice, before and after the 8-week intervention: the first, 4 days after signing the informed consent, and the second, 4 days after completing the treatment.

• Variation in anthropometric measurements

  The evaluation will be conducted twice, before and after the 8-week intervention: the first, 4 days after signing the informed consent, and the second, 4 days after completing the treatment.

• Changes in aerobic capacity

  The evaluation will be conducted twice, before and after the 8-week intervention: the first, 4 days after signing the informed consent, and the second, 4days after completing the treatment.

Study Arms (2)

Charcot Marie Tooth (CMT Group)

EXPERIMENTAL

Participants with Charcot-Marie-Tooth (CMT) will perform an 8-week supervised lower limb Progressive Resistance Exercise Training (RET) program, 3 times per week. Assessments will be conducted pre- and post-intervention to evaluate muscle quality, functional capacity, and quality of life.

Other: Progressive Resistance Exercise Training

CONTROL Group

ACTIVE COMPARATOR

Healthy participants (without Charcot Marie Tooth) will perform an 8-week supervised lower limb Progressive Resistance Exercise Training (RET) program, 3 times per week. Assessments will be conducted pre- and post-intervention to evaluate muscle quality, functional capacity, and quality of life.

Other: Progressive Resistance Exercise Training

Interventions

Progressive Resistance Exercise Training OTHER

Progressive Resistance Exercise Training Supervised (RET) focusing on lower limbs. Warm-up (5 min cycling), followed by 5 sets of leg press, leg extension, leg curl, and weighted dorsiflexion. Cool-down with flexibility exercises. Load progression from 60% to 80% of 1Repetition Maximum across 8 weeks. Participants must complete ≥80% of sessions. Evaluators of pre- and post-intervention outcomes will be blinded.

CONTROL Group; Charcot Marie Tooth (CMT Group)

Eligibility Criteria

• Age: 15 Years - 29 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• Men or women between 15 and 29 years of age with a diagnosis of hereditary sensorimotor polyneuropathy (HSPN) in any of its subtypes, living in the community (for experimental group).
• Healthy men or women between 15 and 29 years of age living in the community (for control group).
• Having active ankle movement within a range from plantarflexion to at least 0° of ankle dorsiflexion, allowing for strength training.

You may not qualify if:

• Osteoarticular or mobility impairments that prevent safe performance of resistance exercise training (e.g., ankle arthrodesis).
• Use of nutritional supplements that may affect skeletal muscle regulation (leucine, glutamine, casein, whey protein, fatty acids, creatine, among others).
• Untreated and/or uncontrolled chronic diseases or intellectual disability.
• History of surgery
• Participation in a resistance exercise training program within the past 6 months.

Sponsors & Collaborators

• Universidad de La Frontera: lead

Study Sites (2)

Temuco, Chile

Temuco, La Araucanía, 4812790, Chile

RECRUITING

Universidad de La Frontera

Temuco, La Araucanía, 4812790, Chile

ACTIVE NOT RECRUITING

Related Links

• The American College of Sports Medicine (ACSM) is a leading global organization dedicated to advancing and integrating scientific research, education, and practical applications in sports medicine, exercise science, and physical activity.

MeSH Terms

Conditions

Polyneuropathies; Charcot-Marie-Tooth Disease

Condition Hierarchy (Ancestors)

Peripheral Nervous System Diseases; Neuromuscular Diseases; Nervous System Diseases; Hereditary Sensory and Motor Neuropathy; Nervous System Malformations; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Central Study Contacts

Fernando J Valenzuela, MSc

CONTACT

+56950166328; fernando.valenzuela@ufrontera.cl

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: SINGLE
• Who Masked: OUTCOMES ASSESSOR
• Masking Details: The expert evaluators of the pre- and post-intervention variables will be blinded.
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Clinical Professor

Study Record Dates

• First Submitted: August 18, 2025
• First Posted: September 3, 2025
• Study Start: September 20, 2025
• Primary Completion (Estimated): July 20, 2026
• Study Completion (Estimated): September 20, 2026
• Last Updated: September 23, 2025

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will not share

Locations

CL (2)