Two Different Treatment Modalities in Patients With Spinal Muscular Atrophy

NCT06178653 | Completed

• 1 other identifier: E-10840098-772.02-198
• Study Type: interventional
• Target: 40
• Locations: 1 country
• Sites: 1

Brief Summary

Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder characterized by the degeneration of alpha motor neurons in the spinal cord, resulting in progressive muscle atrophy and weakness, particularly in proximal and axial muscles. SMA causes respiratory muscle weakness, recurrent infections, and nocturnal hypoventilation, contributing significantly to morbidity and mortality. Children with SMA often display respiratory and trunk muscle weakness compared to healthy controls. Our project aims to investigate the impact of pulmonary rehabilitation, including inspiratory muscle training, along with trunk control exercises in children with SMA. The study will include 40 SMA patients aged 5-18, with maximum inspiratory capacity below 60 centimeters of water (cmH2O), and the ability to sit unsupported for more than 5 seconds. The participants will be randomly assigned to two groups: Pulmonary Rehabilitation Group (Group 1, n=20) and Trunk Control Training Group (Group 2, n=20). Group 1 will undergo breathing exercises and inspiratory muscle training (IMT), involving diaphragmatic, pursed-lip, and segmental breathing. IMT will be administered with a portable device, starting at appropriate resistance and consisting of 10 cycles, 10 minutes each, once a day, with designated rest intervals. Also applied by calculating 30% of the maximal inspiratory pressure (MIP). During weekly clinic visits, the MIP value will be recalculated and the current threshold pressure value will be determined. In Group 2, alongside pulmonary rehabilitation, children will engage in trunk control exercises, progressively increasing in difficulty, focusing on pelvic control, proximal stabilization, and strengthening trunk and gluteal muscles. All interventions will be performed in front of a mirror. At the end of the 8-week intervention, MIP and Maximal Expiratory Pressure (MEP) will be used to measure respiratory muscle performance, spirometry will be used to monitor lung volume changes, and Peak Cough Flow will be used to evaluate the effectiveness of cough. The Trunk Control Measurement Scale, the Revised Upper Extremity Module, and the Children's Quality of Life Scale will assess trunk control, upper extremity functions, and quality of life, respectively. The Hammersmith Functional Motor Scale will assess gross motor functions and the Zarit Caregiver Burden Scale will inquire about familial factors affecting the child.

Conditions

Muscular Atrophy, Spinal

Keywords

Spinal muscular atrophy; Pulmonary rehabilitation; Trunk control; inspiratory muscle training

Outcome Measures

Primary Outcomes (4)

• Inspiratory Muscle Strength

  Inspiratory Muscle Strength will be assessed by the Maximal Inspiratory Pressure (MIP). For MIP measurement, participants will be asked to perform maximum inspiration starting from the residual lung volume following maximum expiration to the total lung capacity.

  8 weeks

• Expiratory Muscle Strength

  Expiratory Muscle Strength will be assessed by the Maximal Expiratory Pressure (MEP). For MEP measurement, participants will be asked to exert maximum expiratory effort from total lung capacity to residual volume. Pressure thresholds sustained for at least 1 second will be recorded. The highest pressure value of these maneuvers, expressed in cmH2O, will be recorded.

  8 weeks

• Pulmonary Function Test

  Participants will be in a sitting position during spirometric measurement in accordance with the standards and recommendations of the American Thoracic Society and European Respiratory Society statement. Forced vital capacity (FVC), volume of air exhaled in the 1st second of forced expiration (FEV1), FEV1/FVC ratio, peak expiratory flow (PEF) values of the participants will be measured through spirometric (Spirobank MIR, Italy) measurement. At least three successful spirometric assessments will be recorded. FVC is the volume of air exhaled rapidly and forcefully following deep inspiration. PEF value is measured by maximum inspiration followed by maximum expiration. It usually correlates with FEV1 measurements. In the interpretation of spirometric tests, information can be obtained about the type and severity of respiratory dysfunction by looking at the shape and numerical parameters of the flow-volume and time curve.

  8 weeks

• Effectiveness of Cough

  The effectiveness of the cough will be evaluated with a Peak Flow meter. This value provides us with information about the expiratory muscles. To evaluate the ability to cough without assistance, the patient is asked to cough as hard as possible into a small handheld device called a peak flow meter (ExpiritePeak Flow Meter DL-F03) while in a sitting position. This measured value is called peak cough flow (PCF). These values will provide an indication of the patient's disease progression, ability to clear secretions, and risk of developing respiratory complications. PCF is applied to children over the age of 4-8. The expected value in healthy individuals is PCF ≥ 360 L/minute. The fact that this value is 270 L/minute in children with DMD, another neuromuscular muscle disease, shows that participants have adequate cough. A PCF value falling below 160 L/minute indicates inadequate airway clearance. Absolute values will be determined by selecting the largest of three consecutive trials.

  8 weeks

Secondary Outcomes (5)

• Trunk Control

  8 weeks

• Upper Extremity Functions

  8 weeks

• Gross Motor Function

  8 weeks

• Quality of Life of the Children

  8 weeks

• Burden of Caregiver

  8 weeks

Study Arms (2)

Pulmonary Rehabilitation Group

EXPERIMENTAL

The program will be carried out 5 days a week, 2 times a day for 8 weeks, one day in the clinic under the supervision of the researcher, and the other four sessions in the home under the supervision of the caregiver. Caregivers will also be taught respiratory rehabilitation techniques to apply at home. Pulmonary Rehabilitation Training Program consists of diaphragmatic breathing, Pursed-lip breathing, and segmental breathing. Inspiratory muscle training: In our research, IMT will be performed in a sitting position using a handheld threshold valve device (Orygen Inspiratory Valve) that offers an adjustable inspiratory resistance via a spring-loaded valve with variable pressure load adjustment from 0-70 cmH2O. Inspiratory muscle training will be applied by calculating 30% of the maximal inspiratory pressure (MIP). During weekly clinic visits, the MIP value will be recalculated and the current threshold pressure value will be determined.

Other: Pulmonary Rehabilitation

Trunk Control Training Group

EXPERIMENTAL

The program will be carried out 3 days a week, with pulmonary rehabilitation in each session, for a total of 45-60 minutes, for 8 weeks. The training of children whose evaluations are completed will begin after individually structured pulmonary rehabilitation and trunk control training programs are created. The content of pulmonary rehabilitation will consist of diaphragmatic breathing, pursed-lip breathing, segmental breathing, and IMT. Exercises and activities for trunk muscle activation, pelvic control, and proximal stabilization will be used together with trunk and gluteal muscle strengthening exercises. The intensity and level of exercises will be increased gradually. Body control work will first start on hard ground and then continue on soft ground and dynamic surfaces. All trunk control training will be applied actively or actively assisted.

Other: Pulmonary Rehabilitation; Other: Trunk Control Training

Interventions

Pulmonary Rehabilitation OTHER

Pulmonary rehabilitation consists of diaphragmatic, pursed-lip, and segmental breathing techniques, and also included inspiratory muscle training (will adjust 30% of maximal inspiratory pressure value)

Pulmonary Rehabilitation Group; Trunk Control Training Group

Trunk Control Training OTHER

Trunk Control Exercises will be based on the neurodevelopmental process. Exercises will progressively include activities such as stretching, turning, etc. while sitting on different surfaces (firm/soft).

Trunk Control Training Group

Eligibility Criteria

• Age: 5 Years - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• Those with genetic documentation of 5q spinal muscular atrophy (SMA) homozygous gene deletion, mutation, or compound heterozygote and who have been clinically diagnosed with SMA,
• Those between the ages of 5-18,
• Maximum inspiratory capacity is less than 60 cmH2O,
• Children who can sit unsupported for at least 5 seconds and who have no or 3 weeks of acute reversible events affecting the upper respiratory tract.

You may not qualify if:

• Having had upper extremity and spine surgery,
• Having other orthopedic and neurological problems,
• Having cognitive impairments that may prevent understanding simple verbal commands,
• Having visual or auditory disabilities,
• Premature birth

Sponsors & Collaborators

• Istanbul Medipol University Hospital: lead
• The Scientific and Technological Research Council of Turkey: collaborator

Study Sites (1)

Medipol Mega University Hospital

Istanbul, Bağcılar, 34214, Turkey (Türkiye)

Location

MeSH Terms

Conditions

Muscular Atrophy, Spinal

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Physiotherapist MSc./Lecturer

Study Record Dates

• First Submitted: December 9, 2023
• First Posted: December 21, 2023
• Study Start: February 21, 2024
• Primary Completion: December 29, 2024
• Study Completion: December 29, 2024
• Last Updated: May 2, 2025

Record last verified: 2023-01

Locations

TU (1)