The Effect of Spinal Orthosis on the Development of Scoliosis and Chest Deformity in Type I Spinal Muscular Atrophy

NCT05878418 | Completed

• 1 other identifier: E-10840098-772.02-200
• Study Type: interventional
• Target: 20
• Locations: 1 country
• Sites: 1

Brief Summary

Spinal muscular atrophy (SMA) is a serious neuromuscular disease characterized by the degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle atrophy and denervation. The main problems are posture disorders, scoliosis, pelvic curvature, contracture, hip dislocation, foot and chest deformities. In this study, examining the effectiveness of trunk support used to alleviate the progression of scoliosis in children diagnosed with SMA Type I will contribute to the current literature.In addition to Individualized Trunk Exercises (ITE), Individualized Pulmonary Rehabilitation (IPR) and Chest Care (CC) Programme, the use of thoracolumbosacral spinal orthosis in Type I children will be used for the first time in our country and in the world literature. SMA. Our aim in the project is to examine the effectiveness of this treatment program on the motor functions, scoliosis Cobb angle, pelvic curvature and chest deformity of children with Type I SMA.The project is planned to be carried out with children diagnosed with Type I SMA who are followed up at Medipol Mega University Hospital Pediatric Chest Diseases Polyclinic.In evaluating the development of scoliosis as the primary outcome measure; Radiological evaluation (Cobb Angle) and examination of chest deformity; Lung X-ray (Basal Chest Wall Upper-Lower Ratio Measurement) will be used. As secondary outcome measures, the Children's Hospital of Philadelphia Infant Test for Neuromuscular Disorders and the Hammersmith Functional Motor Scale Expanded were used to assess motor functions and examine the level of motor development; In the World Health Organization Motor Development Scale body posture assessment; Supine Trunk Rotation Angle Test and Pelvic Curvature Test, pulse oximetry to assess oxygenation; In determining the level of satisfaction with orthosis use; Children/families' information will be questioned through the Quebec Assistive Technology User Satisfaction Evaluation Survey and Personal Information Form.The active control group will receive the ITE, IPR and CC program as a home program and once a week in the outpatient clinic for 8 weeks, 7 days a week, once a day, each session being 50-60 minutes. In the ITE-IPR-CC + spine orthosis group, in addition to the control group program, a thoracolumbosacral spine orthosis specially designed for the child will be used every day of the week and 8 hours a day for 8 weeks. Evaluations will be made at baseline and at week 8.

Conditions

Spinal Muscular Atrophy Type I; Scoliosis; Chest Deformities; Spinal Orthosis; Pulmonary Rehabilitation; Exercise

Keywords

Spinal Muscular Atrophy Type I; Scoliosis; Chest Deformities; Spinal Orthosis; Pulmonary Rehabilitation; Exercise

Outcome Measures

Primary Outcomes (2)

• Radiological Evaluation (Cobb Angle)

  The presence of scoliosis will initially be evaluated clinically using spinal x-rays. The Cobb angle will be used as a measure of scoliosis progression. If possible, radiological evaluation will be performed in the assisted sitting position without providing sitting balance, if it is difficult to take X-rays in the sitting position, in the supine position. Two images will be obtained, anteroposterior and lateral. The location of scoliosis will be classified as thoracic, thoracolumbar and lumbar. Scoliosis direction will be recorded as right and left. In the case of S-shaped scoliosis, the angle used for assessment will be the highest degree.

  8 week

• Lung X-ray (Basal Chest Wall Upper-Lower Ratio Measurement)

  The anteroposterior view of the chest radiograph taken in the supine position will be used. A perpendicular line will be drawn connecting the spinous processes to the horizontal lines drawn from the inner edge of the rib. The longest line of the 2nd rib (Dapex(upper)) and the 9th rib (Dbase(lower)) will be measured. The percentage ratio of the upper/lower chest wall will be calculated as Dapex(upper) / Dbase(lower)×100(%). The presence of pulmonary problems such as atelectic areas will be determined on the chest radiograph and the change in trunk diameter and depth during thoracic expansion will be monitored.

  8 week

Secondary Outcomes (7)

• Philadelphia Children's Hospital Infant Test of Neuromuscular Disorders (CHOP-INTEND)

  8 week

• Hammersmith Extended Functional Motor Scale (HFMSE)

  8 week

• World Health Organization Motor Development Scale (WHO Developmental Milestones)

  8 week

• Supine Trunk Rotation Angle Test

  8 week

• Pelvic Tilt Test

  8 week

Other Outcomes (1)

• Personal Information Form

  Baseline

Study Arms (2)

Trunk Exercises, Pulmonary Rehabilitation and Pulmonary Care Program + Spinal Orthosis Group

EXPERIMENTAL

Trunk Exercises, Pulmonary Rehabilitation and Pulmonary Care Program + Toracolumbosacral Spinal Orthosis

Device: Thoracolumbosacral Spinal Orthosis (TLSO); Other: Trunk Exercise (TE), Pulmonary Rehabilitation(PR) and Pulmonary Care (PC)

Trunk Exercises, Pulmonary Rehabilitation and Pulmonary Care Program Group

ACTIVE COMPARATOR

Trunk Exercises, Pulmonary Rehabilitation and Pulmonary Care Program

Other: Trunk Exercise (TE), Pulmonary Rehabilitation(PR) and Pulmonary Care (PC)

Interventions

Thoracolumbosacral Spinal Orthosis (TLSO) DEVICE

In the TE, PR, PC + spinal orthosis group, in addition to the control group program, a thoracolumbosacral spinal orthosis (TLSO) designed specifically for the child will be used for 8 hours a day for 8 weeks, every day of the week.

Also known as: Pulmonary Rehabilitation, Pulmonary Care, Trunk Exercise

Trunk Exercises, Pulmonary Rehabilitation and Pulmonary Care Program + Spinal Orthosis Group

Trunk Exercise (TE), Pulmonary Rehabilitation(PR) and Pulmonary Care (PC) OTHER

The active control group will receive a TE, PR and PC program in the outpatient clinic once a week for 8 weeks, 7 days a week, once a day, 50-60 minutes per session, for 8 weeks.

Trunk Exercises, Pulmonary Rehabilitation and Pulmonary Care Program + Spinal Orthosis Group; Trunk Exercises, Pulmonary Rehabilitation and Pulmonary Care Program Group

Eligibility Criteria

• Age: 2 Years - 6 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)

You may qualify if:

• years old,
• Clinically and genetically diagnosed as Type I SMA,
• Having scoliosis (20-40 Cobb angle),
• Children who have not had any previous spinal surgery,
• Children who have received or continue to receive their medical treatments (nusinersen and onasemnogene abeparvovec).

You may not qualify if:

• Having acute respiratory failure and/or serious airway infections,
• hour mechanical ventilation dependency,
• Continuing medical treatment in intensive care,
• Having other orthopedic and neurological problems,
• Children of parents who did not agree to participate in the study,
• Children whose chest expansion and/or oxygenation are at risk of being affected and who cannot tolerate the orthosis,
• Children and their parents who do not use the thoracolumbosacral spinal orthosis in accordance with the study protocol and do not comply with trunk exercises, pulmonary rehabilitation and pulmonary care practices.

Sponsors & Collaborators

• Medipol University: lead

Study Sites (1)

Istanbul Medipol University

Istanbul, 34000, Turkey (Türkiye)

Location

Related Publications (1)

• Dansuk E, Van Den Berg ANT, Ata G, Yikilmaz SK, Oktem S. The effect of thoracolumbosacral orthosis on scoliosis progression and chest deformity in children with type 1 spinal muscular atrophy: A randomized controlled trial. PLoS One. 2025 Sep 15;20(9):e0323341. doi: 10.1371/journal.pone.0323341. eCollection 2025.

  PMID: 40953000 DERIVED

MeSH Terms

Conditions

Spinal Muscular Atrophies of Childhood; Scoliosis; Motor Activity

Interventions

Respiratory Therapy

Condition Hierarchy (Ancestors)

Muscular Atrophy, Spinal; Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Motor Neuron Disease; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Spinal Curvatures; Spinal Diseases; Bone Diseases; Musculoskeletal Diseases; Behavior

Intervention Hierarchy (Ancestors)

Therapeutics

Study Officials

• Emre Dansuk, MSc

  Medipol University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: SINGLE
• Who Masked: PARTICIPANT
• Masking Details: Participants will not know which group to belong to.
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: MSc, Physiotherapist

Model Details: Parallel Assignment randomised controlled trial

Study Record Dates

• First Submitted: May 9, 2023
• First Posted: May 26, 2023
• Study Start: October 11, 2023
• Primary Completion: July 23, 2024
• Study Completion: September 10, 2024
• Last Updated: September 19, 2024

Record last verified: 2024-09

Data Sharing

• IPD Sharing: Will not share

Locations

TU (1)