Respiratory Functions, Thoracoabdominal Movements and Exercise Capacity in Neuromuscular Diseases

Lokman Hekim Üniversitesi

Status: Enrolling

Conditions: Respiratory Function Impaired; Respiratory Insufficiency; Neuromuscular Diseases in Children; Plethysmography; Spinal Muscular Atrophy; Duchenne Muscular Dystrophy

Treatments: Other: Hand Grip Strength; Other: Structured light plethysmography; Other: 6-Minute Peg Board Ring Test; Other: 6 Minute Walking Test; Other: Respiratory Function Test

Study type: Observational

Funder types: Other

Identifiers

NCT06756633

LokmanHekimUniv

Details and patient eligibility

About

The clinical trial titled "Investigation of Respiratory Functions, Thoracoabdominal Movements, and Exercise Capacity in Neuromuscular Diseases" aims to evaluate the respiratory functions, thoracoabdominal movements, and exercise capacity in children with Duchenne Muscular Dystrophy (DMD) and Spinal Muscular Atrophy (SMA) compared to healthy controls. The study will use spirometry, structured light plethysmography (SLP), the six-minute walk test, and the six-minute pegboard ring test to assess these functions. This trial will be conducted at the Lokman Hekim University Muscle and Nerve Diseases Application and Research Center from May 2024 to Dec 2025.

Full description

This cross-sectional study will be conducted at the Lokman Hekim University Muscle and Nerve Diseases Application and Research Center over a 20-month period from May 2024 to December 2025. The study will include a total of 42 children, with three groups of 14 participants each: children diagnosed with Duchenne Muscular Dystrophy (DMD), children diagnosed with Spinal Muscular Atrophy (SMA), and a healthy control group. The study is designed to evaluate key respiratory, functional, and muscular parameters in these groups.

Respiratory parameters will be assessed using spirometry and Structured Light Plethysmography (SLP). Spirometry will involve maximal inspiratory and expiratory maneuvers to measure lung volumes and capacities, conducted under standardized conditions and monitored by a trained technician. SLP will be conducted using the PneumoCare device, a non-invasive system that measures thoracoabdominal movement during tidal breathing. A grid of light will be projected onto the chest to capture three-dimensional movement patterns over a five-minute period with participants in a seated position.

Functional and muscular assessments will include the Six-Minute Walk Test (6MWT), the Six-Peg Board Ring Test (6PBRT), and hand grip strength measurements. The 6MWT will be conducted in a 20-meter corridor, where participants will walk for six minutes at their own pace, with heart rate, blood pressure, and oxygen saturation recorded before and after the test. The 6PBRT will assess upper-limb endurance and strength through the timed movement of rings across a pegboard, with accuracy and task duration recorded. Hand grip strength will be measured using a handheld dynamometer, with participants performing three trials, and the highest value noted for analysis.

Data analysis will be performed using IBM SPSS Statistics version 23.0. Descriptive statistics will summarize the demographic and clinical characteristics of participants. Group comparisons will be conducted using independent samples t-tests, Mann-Whitney U tests for non-normally distributed variables, and one-way ANOVA for multi-group comparisons. Correlations between variables will be assessed using Pearson or Spearman correlation coefficients, depending on the distribution of the data. A significance threshold of p<0.05 will be applied, with Bonferroni corrections for multiple comparisons as needed.

Ethical approval for this study was granted by the Lokman Hekim University Scientific Research Ethics Committee (approval number: 2024114). All participants and their legal guardians will provide informed consent prior to enrollment, and all data will be anonymized and securely stored in compliance with the General Data Protection Regulation (GDPR). The study will follow Good Clinical Practices (GCP) and adhere to the ethical principles of the Declaration of Helsinki.

The primary objective is to evaluate and compare respiratory, functional, and muscular parameters in children with DMD and SMA against those in healthy peers. The study aims to identify distinctive patterns and impairments within the patient groups, which could provide insights for developing targeted therapeutic interventions.

Enrollment: 42 estimated patients

Sex: All

Ages: 5 to 15 years old

Volunteers: Accepts Healthy Volunteers

Inclusion and exclusion criteria

1. Duchenne Muscular Dystrophy (DMD)

   -Inclusion Criteria: Clinically diagnosed with Duchenne Muscular Dystrophy. Age above 5 years. Able to breathe independently. Willing to participate in the study.

   -Exclusion Criteria: Presence of cognitive problems that affect the assessment results. History of pulmonary surgery. Advanced heart failure.

2. Spinal Muscular Atrophy (SMA)

   -Inclusion Criteria: Clinically diagnosed with Spinal Muscular Atrophy. Age above 5 years. Able to breathe independently. Willing to participate in the study.

   -Exclusion Criteria: Presence of cognitive problems that affect the assessment results. History of pulmonary surgery. Advanced heart failure.

3. Healthy Controls

   • Inclusion Criteria:

No diagnosis of neuromuscular diseases. Age above 5 years. Able to breathe independently. Willing to participate in the study.

-Exclusion Criteria: Presence of cognitive problems that affect the assessment results. History of pulmonary surgery. Advanced heart failure.

Trial design

42 participants in 3 patient groups

Duchenne muscular dystrophy

Description:

Participants in this group will be clinically diagnosed with Duchenne Muscular Dystrophy. Eligibility criteria include being over 5 years of age, having the ability to breathe independently without mechanical support, and voluntarily agreeing to participate in the study. Participants will be excluded if they have cognitive problems that may affect test results, have undergone pulmonary surgery, or have advanced heart failure.

Treatment:

Other: Respiratory Function Test

Other: 6 Minute Walking Test

Other: 6-Minute Peg Board Ring Test

Other: Hand Grip Strength

Other: Structured light plethysmography

Spinal muscular atrophy

Description:

This group will include participants with a clinical diagnosis of Spinal Muscular Atrophy. Similar to the DMD group, eligibility criteria include being over 5 years old, having independent respiratory function, and providing informed consent for study participation. Exclusion criteria for this group are the presence of cognitive impairments that could influence evaluation results, a history of pulmonary surgery, or advanced heart failure.

Treatment:

Other: Respiratory Function Test

Other: 6 Minute Walking Test

Other: 6-Minute Peg Board Ring Test

Other: Hand Grip Strength

Other: Structured light plethysmography

Healthy controls

Description:

The control group will consist of healthy participants over 5 years of age with no known neuromuscular or respiratory conditions. Participants must be capable of independent breathing and willing to participate in the study. Individuals with cognitive impairments, a history of pulmonary surgery, or any underlying medical condition that could interfere with study outcomes will be excluded from this group.

Treatment:

Other: Respiratory Function Test

Other: 6 Minute Walking Test

Other: 6-Minute Peg Board Ring Test

Other: Hand Grip Strength

Other: Structured light plethysmography