View clinical trials related to Ciliary Motility Disorders.
Filter by:Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder characterized by dysfunction of motile cilia associated with recurrent infections of the airways, laterality defects (Situs inversus totalis in about 50% of cases) and fertility problems. At present, mutations in > 45 genes associated with PCD and mucociliary clearance disorders have been identified, representing most likely two thirds of all human cases. Aim of this study are: - Correlation between genotype and lung function of patients with genetically confirmed PCD in an international cohort on a longitudinal basis - Determination of further parameters, such as body mass index (BMI), possibly associated with lung function in genetically confirmed PCD patients
The investigators will utilize a systematic approach for the diagnostic evaluation of patients to identify characteristics which may distinguish between Primary Immunodeficiency (PID) disorders versus Primary Ciliary Dyskinesia (PCD).
The Ear-Nose-Throat (ENT) Prospective International Cohort of patients with Primary Ciliary Dyskinesia (EPIC-PCD) is a prospective observational clinical cohort study, set up as a multinational multi-centre study. It is embedded into routine patient care of participating reference centres for PCD and patients keep being managed according to local procedures and guidelines.
The COVID-PCD is a participatory research project that aims to study how COVID-19 affects people with primary ciliary dyskinesia (PCD). The study is advertised through patient support groups and participants register online and answer a baseline questionnaire with details on PCD diagnosis, habitual symptoms, and COVID-19 episodes occurring before study entry. A short weekly follow-up questionnaire includes questions on incident SARS-CoV-2 infections, current symptoms, social contact behaviour, and physical activity. Occasionally, participants receive extra questionnaires focused on special topics. The study is hosted at the University of Bern and recruitment started on May 30th, 2020.
The purpose of this study is to determine the effect of a dietary supplement rich in nitric oxide (NO) on nasal nitric oxide and fractional exhaled nitric oxide (FeNO),on ciliary beat frequency assessed by high-speed digital video microscopy and on lung function assessed by spirometry in normal patients and patients with Primary ciliary dyskinesia (PCD).
This project consists of a psychological intervention in patients and their families with different chronic diseases in order to carry out a comparative study between medical pathologies to know which are the protective or risk variables for the adaptation to the disease.
The aim of this study is to compare pulmonary function, respiratory muscle strength, exercise capacity and peripheral muscle strength of patients with CF, PCD and healthy childrens.
Impaired pulmonary function, decreased physical activity, functional capacity and depending on these factors are reported in patients with primary ciliary dyskinesia in recent studies. The purpose of this study to evaluate the effects of game based approach on pulmonary function, functional capacity and quality of life in patients with primary ciliary dykinesia.
Whole genome sequencing of Korean patients with idiopathic bronchiectasis and their family will perform to identify disease-causing variants.
This is a new gene discovery program for individuals with PCD who do not have a specific genetic etiology identified. Research procedures involve a single blood draw from the affected individual and from unaffected family members in an effort to identify new genetic targets.