Clinical Research Directory

Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease

This single-arm pilot study evaluates the effects of whole-body electrical muscle stimulation (WB-EMS) exercise on neuromuscular and physical function in adults with neuromuscular disease (NMD). Due to motor unit impairments, NMD patients often cannot tolerate traditional exercise. WB-EMS bypasses voluntary activation limits by directly stimulating muscle contractions. Up to 50 adults with conditions like ALS, SMA, and MG will undergo 20-minute supervised WB-EMS sessions (1-2 times weekly for 4-8 weeks) using the Katalyst system. Outcomes include neural excitability (TMS), motor unit behavior (EMG, NCS), functional tests (walk, balance, strength), and patient-reported fatigue, pain, and quality of life. Strict safety monitoring and exclusion criteria are in place. This study will provide preliminary data on WB-EMS as a potential exercise modality for NMD.

Walking Function Outcomes Following Surgical Correction With Rehabilitation Versus Physical Therapy Alone in Charcot-Marie-Tooth Disease: A Bidirectional Cohort Study

The goal of this study is to compare changes in walking ability in people with Charcot-Marie-Tooth disease (CMT) who receive two different treatment approaches for foot deformities that affect walking. CMT is an inherited nerve condition that can cause muscle weakness, loss of sensation, and foot deformities. These changes often make walking difficult and can reduce independence and quality of life. Treatment options commonly include physical therapy alone or surgery to correct foot alignment followed by rehabilitation. However, it is not clear whether one approach leads to better long-term walking outcomes. The main question this study aims to answer is whether individuals who undergo functional foot surgery followed by rehabilitation experience different changes in walking ability over time compared with those who receive structured physical therapy alone. Researchers will compare walking performance between these two treatment groups over a period of up to two years. Walking ability will be evaluated using standardized walking tests and patient questionnaires. Participants included in this study are individuals with CMT-related foot deformities that affect walking and who received either surgery followed by rehabilitation or physical therapy alone. Researchers will analyze changes in walking ability over time and determine how many participants achieve meaningful improvement. The findings from this study may help clinicians and individuals with CMT better understand how different treatment strategies influence walking function over time.

Treatment of Charcot-Marie-Tooth Disease, Axonal, Type 2S (CMT2S) in an Individual Patient

This is an 'N of 1', open-label, single center study to evaluate the safety of therapy with VCA-894A, an ASO designed to rescue and restore the activity of IGHMBP2, when administered by intrathecal injection.

CMT Gait, Mobility, Balance - AOFAS Grant

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.

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

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.

Gait Analysis Parameter and Upper Limb Evaluation in Adult Patients With Neurological or Metabolic Pathology

The ActiLiège-Adult study is a prospective, longitudinal, observational study designed to collect natural history data on adult patients with neurological or metabolic diseases affecting movement. Conducted at the Centre de Référence Liégeois des Maladies Neuromusculaires in Liège, Belgium, the study will enroll 300 ambulant patients, including individuals with neuromuscular disorders and obesity. Using the Syde® wearable device, the study aims to continuously monitor motor function in real-life settings over a period of up to two years. The primary objective is to evaluate the utility of digital mobility outcomes, such as the 95th centile of stride velocity (SV95C), as reliable and objective endpoints for future clinical trials.

Personalized Training for People With Rare Neuromuscular Disorders

The goal of this study is to investigate the effects of personalized exercise treatment on dynamic balance and physical function in comparison with regular follow-up in adults with rare-neuromuscular disorders: Charcot-Marie-Tooth (CMT), Facioscapulohumeral Muscular Dystrophy (FSHD), and Myotonic Dystrophy Type 1 (DM1). The key objectives are: 1. To investigate if the intervention group experiences improvements in dynamic balance that are superior to the control group 2. To investigate if the intervention group experiences long-term improvements in dynamic balance that are superior to the control group during the follow-up 3. To investigate if improvements in dynamic balance are associated with improvements in physical activity, body composition, estimated motor units, metabolomics, muscle echnogenecity and volume, and other indicators of health and quality of life. This is a national study and will involve 120 individuals with rare-neuromuscular disorders from Norway's four health regions.