View clinical trials related to Ciliary Motility Disorders.
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Primary ciliary dyskinesia is an autosomal recessive disorder characterized by abnormal ciliary movement and disrupted mucociliary clearance. In uncleaned airways, microorganisms and respiratory irritants cause inflammation and infection. Permanent rhinitis and chronic sputum cough are typical features in primary ciliary dyskinesia patients. Primary ciliary dyskinesia is a disease that threatens lung function from pre-school age. One of the main causes of respiratory muscle weakness in chronic lung diseases diseases is worsening of lung function. Such a weakness causes alveolar hypoventilation, microatelectasis, reduction of the cough strength .The cough strength is important for airway cleaning. Exercise capacity is affected in chronic lung diseases. Assessment of exercise capacity in chronic lung diseases is prognostically important. Reduced exercise capacity and pulmonary function in PCD cause decrease in physical activity level. PCD patients have low quality of life and early recognition has been found to affect the quality of life positively. Children with chronic illness have higher level of depression than healthy children. In literature, no study investigated respiratory muscle strength, exercise capacity and physical activity PCD patients. Therefore, the investigators aimed to compare aforementioned outcomes in PCD patients and healthy controls.
Primary Ciliary Dyskinesia (PCD) is a rare disease, which means that any single PCD center has experience with a limited number of patients. PCD Registry is the collection of data about PCD from many centers and countries who treat children with PCD. Collecting data about PCD increase the knowledge on PCD, better describe the course of the disease, and help to better understand the progression of the disease and be used to develop new treatments. In the PCD registry of Alberta, important information about PCD such as time of diagnosis, symptoms, and tests which led to the diagnosis, state of health at diagnosis, the progression of lung function, the occurrence of severe infections, tests and treatments data will be collected from the patients' medical records.
To evaluate the safety and efficacy of treatment with VX-371 with and without ivacaftor, and the effect of VX-371 with and without ivacaftor on quality of life (QOL) in subjects with primary ciliary dyskinesia (PCD).
This is a multi-centre, single visit clinical investigation involving patients with known PCD vs. age matched healthy volunteers. This study involves 1 visit which will last one (1) to two (2) hours. Participants (and parent as applicable) will be asked for their consent to participate in the study. A brief medical history will be recorded, including information such as age, gender, height, weight, race, current medications and living environment. If the participant is a PCD patient, they will also be asked about their disease history. Prior to performing the nasal measurements, participants will receive instructions from study personnel and have the opportunity to practice. All participants will have a brief nasal exam and will also have to blow their nose before starting the measurements. Participants will be asked to perform nasal nitric oxide measurements using the tidal breathing method followed by the velum closed with expiration against resistance method. The primary objective is to determine the feasibility and capability of the NIOX VERO to discriminate participants with PCD from those that are healthy. Information collected in this study will help researchers understand more about the diagnosis of and identification of patients with PCD.
This study is designed to study DNA sequencings for mutations in a research genetic test panel of genes (which contains all 32 known and/or published genes associated with PCD). The study aims to show that about 70% of PCD patients have biallelic mutations in one of these genes. This project will enroll patients who have already had a clinical evaluation, and have clinical features consistent with PCD.
The objective of this study is to compare the lower airways inflammatory response to infection/pulmonary exacerbation among children known to have Primary Ciliary Dyskinesia (PCD) with children known to have Cystic Fibrosis (CF) as measured by the presence of inflammatory mediators in expectorated/induced sputum.
Primary ciliary dyskinesia is an inherited respiratory disease caused by various functional and ultrastructural abnormalities of respiratory cilia. The genetic heterogeneity underlying PCD is extremely important and only few genes are clearly implicated in PCD. Their mutations account for about 20% of patients. For all the other PCD patients, the genes responsible for their ciliary defect remain to be identify.
Primary ciliary dyskinesia (PCD), also known as Kartagener syndrome, is a genetic disorder of the cilia, which are microscopic hair-like cells. Cilia work to keep the respiratory system clean by moving mucus that contains debris to the large airways, where it can be coughed out. People with PCD have cilia that do not move properly and therefore are not effective in cleaning the respiratory system. This study will determine when PCD starts and how it changes over time, specifically in terms of how well the lungs work, what germs grow in lung secretions, and how the lungs look on computed tomography (CT) scans.
This study will examine genetic material obtained from blood and tissue samples of patients with congenital heart disease (CHD) and heterotaxy (an abnormality in the left-right positioning of organs in the body, also called situs inversus) to gain a better understanding of these disorders and of a lung disease called primary ciliary dyskinesia (PCD). CHD is prevalent in patients with heterotaxy. It is believed that certain forms of CHD or heterotaxy may have the same genetic origin as PCD. Individuals 2 years of age or older who have a CHD or heterotaxy or both may be eligible for this study. Participants undergo some or all of the following tests and procedures: - Blood tests, electrocardiogram (EGC) and chest x-ray. - Saliva collection: Subjects rinse their mouth with water, and then spit approximately 1.5 cc of saliva into a sterile container. - Buccal swabs: A small soft, toothbrush-like swab is rubbed on the inside lining of the cheek to collect tissue samples. - Nasal tests to measure nasal nitric oxide levels and to obtain tissue samples from the inside of the nostrils: For the nitric oxide level test, a rubber probe is inserted into one of the nostrils until it fits snugly and comfortably. The subject then takes a deep breath and then exhales all the way out through the mouth through a plastic device. During exhalation, gas measurements are recorded on a computer. To obtain tissue samples, a device is inserted in a nostril and scraped gently against the inside of the nose. - Echocardiography: This ultrasound test of the heart uses sound waves to obtain pictures of the heart. A small wand with a warm clear gel is moved around the chest to obtain the images. - Abdominal ultrasound: This ultrasound test of the heart uses sound waves to obtain pictures of the abdominal organs. A small wand with a warm clear gel is moved around the abdomen to obtain the images....