Malnutrition and Sarcopenia Among Primary Ciliary Dyskinesia

Официальное название

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

Обзор

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.

Подробное описание

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.

Вмешательства

• Другое 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.

Первичные конечные точки

• Handgrip Muscle Strength in Participants [Срок оценки: From enrollment to the end of treatment at 1 year]

Вторичные конечные точки (12)

• Malnutrition risk score in Participants [Срок оценки: From enrollment to the end of treatment at 1 year]
• Body Weight [Срок оценки: From enrollment to the end of treatment at 1 year]
• Height [Срок оценки: From enrollment to the end of treatment at 1 year]
• Body Mass Index [Срок оценки: From enrollment to the end of treatment at 1 year]
• Waist circumference [Срок оценки: From enrollment to the end of treatment at 1 year]
• Hip circumference [Срок оценки: From enrollment to the end of treatment at 1 year]
• Waist-to-hip ratio [Срок оценки: From enrollment to the end of treatment at 1 year]
• Waist-to-Height ratio [Срок оценки: From enrollment to the end of treatment at 1 year]
• Upper-middle arm circumference [Срок оценки: From enrollment to the end of treatment at 1 year]
• Triceps skinfold thickness [Срок оценки: From enrollment to the end of treatment at 1 year]
• Body fat percentage [Срок оценки: From enrollment to the end of treatment at 1 year]
• Height by Age [Срок оценки: From enrollment to the end of treatment at 1 year]

Критерии участия

Критерии включения

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

Критерии исключения

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

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Модель наблюдения

Только случаи

Центры проведения

Turkey (Türkiye) · 1 центр

• Izmir Democracy University — Izmir

Публикации

• 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

Идентификаторы

NCT: NCT07740538 · Primary Ciliary Dyskinesia

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

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