The Effect of Aerobic Exercise Training in Patients With Type III Spinal Muscular Atrophy

Neuromuscular Diseases Clinical Trial

Official title: The Effect of Aerobic Exercise Training in Patients With Type III Spinal Muscular Atrophy"

Status Recruiting

Clinical Trial Summary

In the last 10-15 years, a better understanding of the pathophysiology and molecular genetics of SMA has led to the emergence of previously unavailable pharmacological and genetic treatments.One of these new treatments, Nusinersen, targets SMN2, which is a slightly different copy of SMN1, and increases SMN protein levels.

Preclinical studies have provided evidence that neuroprotection is strongly formed, with exercise significantly increasing motor neuron survival independent of SMN expression.

In a limited number of clinical studies prior to Nusinersen treatment, it was reported that aerobic exercise training improved maximum oxygen uptake (VO2 max) without causing muscle damage, but still caused fatigue.

The aim of this study is to determine the effect of aerobic exercise training on motor and respiratory functions, exercise capacity, fatigue and quality of life in SMA Type III patients who can walk and receive Nusinersen therapy. Twenty cases aged 10-50 years with genetically confirmed SMA diagnosis will be included in this study. The cases to be included in the study will be randomized into 2 groups as the training and control groups.

In addition to the routine physiotherapy program, medium-intensity Aerobic Exercise Training will be given to the study group for 12 weeks. Before and 12 weeks after the training, the cases will be evaluated with the Six Minute Walking Test, Submaximal Exercise Test, SMN protein level, function and strength assessments, (FVC) value, fatigue and quality of life scales.

In clinical trials, the supporting evidence for aerobic interventions in SMA is limited.

Additional studies on aerobic intervention parameters (frequency, intensity and duration) are needed.The results of this study will determine the feasibility of aerobic exercise training and provide important guidance for the clinical management of SMA patients.

Clinical Trial Description

Spinal Muscular Atrophy (SMA) is a neuromuscular disorder characterized by degeneration of alpha motor neurons in the spinal cord, leading to progressive muscle atrophy and weakness. Mutation or deletion of the survival motor neuron1 (SMN1) gene causes insufficient production of the SMN protein, which ensures motor neuron survival and maintenance in the spinal cord.

In the last 10-15 years, a better understanding of the pathophysiology and molecular genetics of SMA has led to the emergence of previously unavailable pharmacological and genetic treatments. One of these new treatments, Nusinersen targets SMN2, which is a slightly different copy of SMN1, increases SMN protein levels. Preclinical studies have provided evidence that exercise significantly increases motor neuron survival independent of SMN expression, and that neuroprotection is strongly formed. In a limited number of clinical studies prior to Nuinersen therapy, it was reported that aerobic exercise training improved maximum oxygen uptake (VO2 max) without causing muscle damage, but still caused fatigue and had no significant beneficial effect on physical functioning. This study aims to determine the effect of aerobic exercise training on motor and respiratory functions, exercise capacity, fatigue and quality of life in SMA Type III patients who can walk and receive Nusinersen treatment. Twenty patients between the ages of 10 and 50 with genetically confirmed SMA diagnosis will be included in this study. The patients will be randomly divided into 2 groups as the training and control groups. In addition to the routine physiotherapy program, the study group will be given a moderate-intensity Aerobic Exercise Training for 12 weeks. Before and after 12 weeks of training, subjects will be evaluated with the Six-Minute Walk Test, ,Submaximal Exercise Test, SMN protein level and function and strength assessments, (FVC) value, fatigue and quality of life scales.

In clinical trials, the supporting evidence for aerobic interventions in SMA is limited. It has been reported that SMA patients cannot tolerate excessive exercise intensity and that recovery may be prevented due to excessive fatigue. Additional studies on aerobic intervention parameters (frequency, intensity and duration) are needed. The results of this study will determine the feasibility of aerobic exercise training and will have an impact on clinical practice by providing important guidance to the clinical management of SMA patients. ;

Related Conditions & MeSH terms

• Atrophy
• Muscular Atrophy
• Muscular Atrophy, Spinal
• Neuromuscular Diseases
• Spinal Muscular Atrophy Type 3

• NCT number: NCT05544994
• Study type: Interventional
• Source: Istanbul Medipol University Hospital
• Contact: Sezan Mergen KILIÇ, MSc PT
• Phone: 05324569628
• Email: sezanmer@hotmail.com
• Status: Recruiting
• Phase: N/A
• Start date: July 28, 2022
• Completion date: September 30, 2024