Malnutrition and Sarcopenia Among Primary Ciliary Dyskinesia
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Physical assessments of individuals.
- Who it may be relevant to
- Registry conditions: Primary Ciliary Dyskinesia (PCD). Basic parameters: 6 years — 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Turkey (Türkiye)
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Associations Between the Status of Malnutrition and Sarcopenia in Children and Adolescents With Primary Ciliary Dyskinesia
Overview
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.
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.
Interventions
- 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.
Primary outcome measures
- Handgrip Muscle Strength in Participants [Time frame: From enrollment to the end of treatment at 1 year]
Secondary outcome measures (12)
- Malnutrition risk score in Participants [Time frame: From enrollment to the end of treatment at 1 year]
- Body Weight [Time frame: From enrollment to the end of treatment at 1 year]
- Height [Time frame: From enrollment to the end of treatment at 1 year]
- Body Mass Index [Time frame: From enrollment to the end of treatment at 1 year]
- Waist circumference [Time frame: From enrollment to the end of treatment at 1 year]
- Hip circumference [Time frame: From enrollment to the end of treatment at 1 year]
- Waist-to-hip ratio [Time frame: From enrollment to the end of treatment at 1 year]
- Waist-to-Height ratio [Time frame: From enrollment to the end of treatment at 1 year]
- Upper-middle arm circumference [Time frame: From enrollment to the end of treatment at 1 year]
- Triceps skinfold thickness [Time frame: From enrollment to the end of treatment at 1 year]
- Body fat percentage [Time frame: From enrollment to the end of treatment at 1 year]
- Height by Age [Time frame: From enrollment to the end of treatment at 1 year]
Eligibility criteria
Inclusion criteria
Inclusion criteria for children and adolescents with PCD
- 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.
- Cooperative individuals,
- Individuals who have never smoked
- 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:
- Individuals with any acute, chronic, or systemic illness other than PCD
- Individuals who smoke or are quitting smoking
- Individuals who are not willing to participate in the study
- Individuals who are uncooperative
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Case-only
Study locations
Turkey (Türkiye) · 1 center
- Izmir Democracy University — Izmir
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. PMID 38891105
- 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. PMID 42001405
- 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. PMID 42203237
Identifiers
NCT: NCT07740538 · Primary Ciliary Dyskinesia