Active clinical trials for "Ciliary Motility Disorders"

This is the first-in-human study with RCT1100 and is designed to provide initial safety and tolerability data for future clinical studies.

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).

Although patients with bronchiectasis tend to have non reversible obstructive patterns on pulmonary function tests (PFTs), reversible obstruction is not uncommon. While bronchodilator response (BDR) is a main characteristic of asthma, the pathophysiology causing this phenomenon in bronchiectasis patients is less clear. The goal of this clinical trial is to assess BDR in patients with bronchiectasis. The main aims of this study: To evaluate the role of bronchodilators in BDR testing of patients with bronchiectasis. Characterize and compare BDR between different subgroups of patients with bronchiectasis, and compared to patients without bronchiectasis (healthy controls). Identify demographics and other clinical variables associated with positive BDR Participants will be taking a series of three spirometry tests: After the first spirometry testing, patients will be randomly assigned to receive bronchodilators as per bronchodilator response protocol (Salbutamol, 100 mcg, 4 puffs via spacer) or four puffs of placebo. After a waiting time of 15 minutes, spirometry will be repeated. Following the second spirometry testing those who received salbutamol will now receive placebo and those receiving placebo will receive Salbutamol. After a second period of 15 minutes, a third series of spirometry will be recorded.

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.

This is a study evaluating the utility of current Primary Ciliary Dyskinesia (PCD) diagnostic tests, including nasal nitric oxide testing.

The Swiss Primary Ciliary Dyskinesia (PCD) Registry is a national patient registry that collects information on diagnosis, symptoms, treatment and follow-up of patients with PCD in Switzerland and provides data for national and international monitoring and research.

Primary Ciliary Dyskinesia associated with abnormalities of lateralization of organs (with existence of a situs inversus in 50% of cases) and secondary fertility disorders related in humans to abnormalities of mobility of sperm but very little data on the structure and function of tubal cilia in women

The iPCD Cohort is an international cohort that assembles available retrospective datasets and prospectively newly collected clinical and diagnostic data from patients suffering from primary ciliary dyskinesia (PCD) worldwide, to answer pertinent questions on clinical phenotype, disease severity, prognosis and effect of treatments in patients with this rare multiorgan disease.

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 overall short-term goals of this project include the following: 1) identify the genes that are key to the function of respiratory cilia to protect the normal lung; and 2) the effects of genetic mutations that adversely affect ciliary function and cause primary ciliary dyskinesia (PCD), which results in life-shortening lung disease. The long-term goal of this project is to develop better understanding of the underlying genetic variability that adversely modifies ciliary function, and predisposes to common airway diseases, such as asthma and chronic obstructive pulmonary disease.