Malnutrition and Sarcopenia Among Primary Ciliary Dyskinesia (Malnutrition)

Associations Between the Status of Malnutrition and Sarcopenia in Children and Adolescents With Primary Ciliary Dyskinesia

The prevalence and causes of malnutrition and sarcopenia in children and adolescents with Primary ciliary dyskinesia (PCD) have not been sufficiently elucidated. The aim of this study is to investigate the prevalence of malnutrition and sarcopenia in children and adolescents with PCD.

Study Overview

• Status: Not yet recruiting
• Conditions: Primary Ciliary Dyskinesia (PCD)
• Intervention / Treatment: Other: Physical assessments of individuals

Detailed Description

Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder characterized by abnormal ciliary motility and impaired mucociliary clearance. It develops as a result of mutations in genes responsible for ciliary movement. Structural or functional abnormalities of cilia lead to chronic upper and lower respiratory tract infections, fertility problems, and organ laterality defects. The prevalence of PCD ranges from 1 in 2,000 to 1 in 40,000, varying among different ethnic groups. The disease begins to negatively affect lung function from the preschool period onward. In children with PCD, respiratory function is generally characterized by mild to moderate airway obstruction. As the disease progresses, the severity of airway obstruction increases. Therefore, regular monitoring of pulmonary function is of great importance in the management of PCD. The prevalence and causes of malnutrition and sarcopenia in children and adolescents with PCD have not been sufficiently elucidated. The aim of this study is to investigate the prevalence of malnutrition and sarcopenia in children and adolescents with PCD.

• Study Type: Observational
• Enrollment (Estimated): 15

Contacts and Locations

• Study Contact: Name: Kerim Kaan K GÖKÜSTÜN, Dr. Lecturer; Phone Number: +90 232 299 07 39; Email: kerimkaangokustun@hotmail.com
• Study Contact Backup: Name: Gülşah BARĞI, Assoc. Dr.; Phone Number: +90 232 299 07 39; Email: gulsahbargi35@gmail.com

Study Locations

• Turkey (Türkiye)
  • Izmir, Turkey (Türkiye), 35140
    • Izmir Democracy University
    • Contact: Kerim K GÖKÜSTÜN, Dr. Lecturer; Phone Number: 05058699032; Email: kerimkaangokustun@hotmail.com
    • Contact: Gülşah BARĞI, Assoc. Dr.; Email: gulsahbargi35@gmail.com

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

The study will include children and adolescents aged 6-18 years with Primary Ciliary Dyskinesia (PCD).

Description

Inclusion Criteria:

Inclusion criteria for children and adolescents with PCD

1. Unexplained neonatal respiratory distress, lateralization defect, productive cough, bronchiectasis, daily nasal congestion, and pansinusitis, as well as laboratory tests such as high-speed video microscopy, transmission electron microscopy, or genetic testing according to the European Respiratory Society diagnostic guidelines.
2. Cooperative individuals,
3. Individuals who have never smoked
4. Willingness to participate in the study

Inclusion criteria for healthy children and adolescents:

1. Voluntary participation in the study

Exclusion Criteria:

Exclusion criteria for children and adolescents with PCD:

1. Individuals with any acute, chronic, or systemic illness other than PCD
2. Individuals who smoke or are quitting smoking
3. Individuals who are not willing to participate in the study
4. Individuals who are uncooperative

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Patient of Primary Ciliary Dyskinesia; The study will include children and adolescents with PCD aged 6 to 18 (n=15).	Other: Physical assessments of individuals; Participants will be evaluated in terms of nutritional status, anthropometric measurements (waist circumference, hip circumference, waist-to-height ratio, skinfold measurements) and body composition, pulmonary functions, anaerobic capacity, muscle strength.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Handgrip Muscle Strength in Participants	Bilateral grip strength in children and adolescents with PCD will be measured in kgF using a hand dynamometer.	From enrollment to the end of treatment at 1 year

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Malnutrition risk score in Participants	The Nutritional Status and Growth Risk Screening Tool will be used to assess the risk of growth failure. The total score on this scale ranges from 0 to 5; a score of 0 indicates a low risk of malnutrition, a score of 1-3 indicates a moderate risk of malnutrition, and a score of 4-5 indicates a high risk of malnutrition.	From enrollment to the end of treatment at 1 year
Body Weight	Body weight in children and adolescents with PCD will be measured using a pediatric scale.	From enrollment to the end of treatment at 1 year
Height	In children and adolescents with PCD, height will be measured using a stadiometer.	From enrollment to the end of treatment at 1 year
Body Mass Index	For children and adolescents with PCD, the body mass index will be calculated by dividing body weight by the square of height in meters.	From enrollment to the end of treatment at 1 year
Waist circumference	Waist circumference in children and adolescents with PCD will be measured using a tape measure	From enrollment to the end of treatment at 1 year
Hip circumference	Hip circumference in children and adolescents with PCD will be measured using a tape measure	From enrollment to the end of treatment at 1 year
Waist-to-hip ratio	In children and adolescents with PCD, the waist-to-hip ratio will be calculated by dividing the waist circumference by the hip circumference.	From enrollment to the end of treatment at 1 year
Waist-to-Height ratio	In children and adolescents with PCD, the waist-to-height ratio will be calculated by dividing the waist circumference by the height.	From enrollment to the end of treatment at 1 year
Upper-middle arm circumference	In children and adolescents with PCD, upper arm circumference will be measured using a non-stretchable tape measure, without tightening it or leaving any slack.	From enrollment to the end of treatment at 1 year
Triceps skinfold thickness	In children and adolescents with PCD, triceps skinfold thickness will be measured using a skinfold caliper.	From enrollment to the end of treatment at 1 year
Body fat percentage	Body fat percentage in children and adolescents with PCD will be measured using bioelectrical impedance analysis.	From enrollment to the end of treatment at 1 year
Height by Age	The percentile values for height by age in children and adolescents with PCD will be determined using data from the CDC's website.	From enrollment to the end of treatment at 1 year
Weight by Height	The percentile values for Weight by Height in children and adolescents with PCD will be determined using data from the CDC's website.	From enrollment to the end of treatment at 1 year
Weight by Age	The percentile values for Weight by Age in children and adolescents with PCD will be determined using data from the CDC's website.	From enrollment to the end of treatment at 1 year
Body Mass Index by Age	Body Mass Index (BMI) is an anthropometric index calculated by dividing body weight in kilograms by the square of height in meters. Body Mass Index by Age (BMI-for-Age) is the body mass index (BMI) adjusted for age and sex and interpreted using age- and sex-specific growth reference charts.The percentile values for Body Mass Index by Age in children and adolescents with PCD will be determined using data from the CDC's website.	From enrollment to the end of treatment at 1 year
Forced Expiratory Volume at One Second	Forced Expiratory Volume at One Second is the volume of air that an individual can forcibly exhale during the first second of a maximal forced expiration following a full inspiration. It is typically expressed in liters or as a percentage of the predicted value (% predicted).	From enrollment to the end of treatment at 1 year
Forced Vital Capacity	Forced Vital Capacity is the total volume of air that an individual can forcibly exhale after taking a maximal inspiration. It is typically expressed in liters (L) or as a percentage of the predicted value (% predicted).	From enrollment to the end of treatment at 1 year
Forced Expiratory Volume at One Secondto Forced Vital Capacity Ratio	Forced Expiratory Volume at One Second to Forced Vital Capacity Ratio is the proportion of the forced vital capacity that is exhaled during the first second of a forced expiration following a maximal inspiration. It is expressed as a percentage.	From enrollment to the end of treatment at 1 year
Peak Expiratory Flow	Peak Expiratory Flow is the maximum expiratory flow rate achieved during a forced expiration following a maximal inspiration. It is typically expressed in liters per minute.	From enrollment to the end of treatment at 1 year
Forced Expiratory Flow at 25-75% of Forced Vital Capacity	Forced Expiratory Flow at 25-75% of Forced Vital Capacity is the average forced expiratory flow measured during the middle 50% of the forced vital capacity maneuver, specifically between 25% and 75% of the exhaled volume. It is typically expressed in liters per second.	From enrollment to the end of treatment at 1 year

Collaborators and Investigators

• Sponsor: Izmir Democracy University
• Investigators: Principal Investigator: Gülşah BARĞI, Assoc. Dr., Izmir Democracy University; Study Director: Kerim K Göküstün, Dr. Lecturer, Izmir Democracy University; Principal Investigator: Aybüke Sena DEMİR, MSc., Izmir Democracy University; Principal Investigator: Ece OCAK, Dr., University of Health science

Publications and helpful links

General Publications

• Despotes KA, Zariwala MA, Davis SD, Ferkol TW. Primary Ciliary Dyskinesia: A Clinical Review. Cells. 2024 Jun 4;13(11):974. doi: 10.3390/cells13110974.
• McCoy J, Gatt D, Shaw M, Solomon M, Kritzinger F, Ratjen F. The Impact of Nutritional Status on Lung Function Trajectories in Pediatric Patients With Primary Ciliary Dyskinesia. Pediatr Pulmonol. 2026 Apr;61(4):e71634. doi: 10.1002/ppul.71634.
• Karavasiloglou N, Gkatzou V, Fernandez-Rodriguez A, Schwartz V, Goutaki M. Nutrition and growth of primary ciliary dyskinesia patients: a systematic review. Eur Respir Rev. 2026 May 27;35(180):260024. doi: 10.1183/16000617.0024-2026. Print 2026 Apr.

Study record dates

Study Major Dates

• Study Start (Estimated): August 3, 2026
• Primary Completion (Estimated): July 1, 2027
• Study Completion (Estimated): July 1, 2028

Study Registration Dates

• First Submitted: July 23, 2026
• First Submitted That Met QC Criteria: July 28, 2026
• First Posted (Actual): July 31, 2026

Study Record Updates

• Last Update Posted (Actual): July 31, 2026
• Last Update Submitted That Met QC Criteria: July 28, 2026
• Last Verified: July 1, 2026

More Information

Terms related to this study

• Keywords: Sarcopenia; Malnutrition; Muscle strength; Respiratory function test; Primary Ciliary Dyskinesia
• Additional Relevant MeSH Terms: Ciliopathies; Neurologic Manifestations; Nervous System Diseases; Neuromuscular Manifestations; Nutrition Disorders; Pathological Conditions, Anatomical; Genetic Diseases, Inborn; Respiratory Tract Diseases; Congenital Abnormalities; Otorhinolaryngologic Diseases; Abnormalities, Multiple; Muscular Atrophy; Atrophy; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Signs and Symptoms; Malnutrition; Ciliary Motility Disorders; Sarcopenia
• Other Study ID Numbers: Primary Ciliary Dyskinesia

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No