Clinical trial NCT05816876: Muscle Function, Exercise Capacity and Physical Activity Level in Primary Ciliary Dyskinesia and Kartagener Syndrome
Official title: Comparison of Respiratory and Peripheral Muscle Functions, Exercise Capacity and Physical Activity Level in Primary Ciliary Dyskinesia and Kartagener Syndrome
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Primary Ciliary Dyskinesia
Keywords: primary ciliary dyskinesia
exercise capacity
muscle strength
physical activity
Lead sponsor: Gazi University
Sponsor class: OTHER
First posted: 2023-04-18
Enrollment: 65
Sex: ALL
Minimum age (years): 6
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: yes
Observational model: OTHER
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Forty patients with primary ciliary dyskinesia/Kartagener's Syndrome were recruited. It also has 60 healthy data.

Brief summary: Studies evaluating respiratory and peripheral muscle functions in PCD patients and comparing them with healthy children are limited in the literature. There is no study investigating pulmonary and extrapulmonary effects in Kartagener syndrome, which is a form of PCD. The aim of our study is to compare respiratory functions, respiratory muscle strength and endurance, exercise capacity, peripheral muscle strength, physical activity level and quality of life in patients with PCD, Kartagener syndrome and healthy children.

Detailed description: Primary ciliary dyskinesia (PCD) is an autosomal recessive disease characterized by abnormal ciliary movement and impaired mucociliary clearance. Kartagener syndrome is an autosomal recessive primary ciliary dyskinesia syndrome characterized by situs inversus, bronchiectasis and chronic sinusitis and is the most serious form of PCD, accounting for 50% of all PCD cases. In these syndromes, there is both movement and structural defect in the cilia, and mucociliary clearance is impaired. Symptoms usually appear in childhood. Organ anomalies can also be seen in Kartagener syndrome. Primary ciliary dyskinesia is a disease that threatens lung functions starting from preschool age. One of the main causes of respiratory muscle weakness in chronic lung diseases is worsening of lung functions. Evaluation of exercise capacity in patients with PCD has prognostic importance. Decreased exercise capacity, respiratory function, and cardiopulmonary function cause physical inactivity. In chronic lung diseases, sedentary lifestyle, airway obstruction, malnutrition and decreased exercise capacity cause muscle weakness. Muscle strength and function are important for performing activities of daily living. There is no study in the literature comparing respiratory and physical functions in children with PCD and in children with Kartagener's syndrome, which is the most serious form of PCD. The aim of our study is to compare respiratory functions, respiratory muscle strength and endurance, exercise capacity, peripheral muscle strength, physical activity level and quality of life in patients with PCD, Kartagener syndrome and healthy children.

The study was planned as a cross-sectional, retrospective. Individuals aged 6-18 years, who were diagnosed with PCD and Kartagener syndrome, and received standard medical treatment, were included in the study. For the healthy group, individuals aged 6-18 years without a known chronic disease were included. Individuals' exercise capacity, respiratory functions, physical activity levels, peripheral and respiratory muscle strength, respiratory muscle endurance and quality of life will be evaluated. Exercise capacity evaluated using six-minute walk test, physical activity using multi-sensor activity monitor, pulmonary function using spirometry, respiratory muscle strength using mouth pressure device, peripheral muscle strength using hand-held dynamometer, respiratory muscle endurance using incremental threshold loading test, life quality using "The Primary Ciliary Dyskinesia Quality of Life scale" (Turkish version). The assessments will be completed in two days.

Eligibility criteria: Inclusion Criteria:

Patients;

* Individuals aged 6-18 years, who were diagnosed with PCD and Kartagener syndrome, and received standard medical treatment, were included in the study.

Healthy controls;

-Individuals between the ages of 6 and 18 without a known chronic disease will be included.

Exclusion Criteria:

Patients;

* Patients who are uncooperative, have orthopedic or neurological disorders that will affect functional capacity, and have pneumonia or any acute infection during the evaluation will be excluded from the study.

Healthy controls;

-Those with a known chronic disease, uncooperative and orthopedic or neurological disorders that will affect functional capacity will not be included.

Primary outcomes:
measure: Functional exercise capacity
timeFrame: First Day
Secondary outcomes:
measure: Physical activity (Total energy expenditure)
timeFrame: Second Day
measure: Physical activity (Active energy expenditure (joule / day))
timeFrame: Second Day
measure: Physical activity (Physical activity time (min / day))
timeFrame: Second Day
measure: Physical activity (Average metabolic equivalent (MET / day))
timeFrame: Second Day
measure: Physical activity (Number of steps (steps / day))
timeFrame: Second Day
measure: Physical activity (Time spent lying down (min / day) days))
timeFrame: Second Day
measure: Physical activity (Sleep time (min / day))
timeFrame: Second Day
measure: Pulmonary function (Forced vital capacity (FVC))
timeFrame: First Day
measure: Pulmonary function (Forced expiratory volume in the first second (FEV1))
timeFrame: First Day
measure: Pulmonary function (FEV1 / FVC)
timeFrame: First Day
measure: Pulmonary function (Flow rate 25-75% of forced expiratory volume (FEF 25-75%))
timeFrame: First Day
measure: Pulmonary function (Peak flow rate (PEF))
timeFrame: First Day
measure: Respiratory muscle strength
timeFrame: First Day
measure: Peripheral muscle strength
timeFrame: Second day
measure: Respiratory muscle endurance
timeFrame: Second Day
measure: Life quality
timeFrame: Second Day
Other outcomes:
Locations:
city: Ankara
country: Turkey
facility: Gazi University Facutly of Health Sciences Department of Physiotheraphy and Rehabilitation, Cardiopulmonary Rehabilitation Unit
state: Çankaya
Study officials:
affiliation: Gazi University
name: Meral Boşnak Güçlü, Prof. Dr.
role: STUDY_DIRECTOR
affiliation: Hacettepe University
name: Merve Fırat, MD
role: STUDY_CHAIR
affiliation: Baskent University
name: Şeyma Mutlu, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Gazi University
name: Betül Yoleri, MD
role: PRINCIPAL_INVESTIGATOR
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