Active clinical trials for "Ciliary Motility Disorders"

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.

Autoimmune gastrointestinal dysmotility syndromes are poorly understood, and often difficult to treat because the underlying pathogenesis is unclear. Refractory symptoms result in an impaired quality of life. The presence of positive serum autoantibodies to peripheral nervous system gangliosides and glycoproteins is suggestive of a possible mechanism. Immunomodulator treatments have shown benefit in case reports and case series but standardized data for treatment response is lacking. Therefore, our primary aims are to further characterize this syndrome in terms of symptoms, laboratory testing, pathology, and assess treatment response of immunomodulator therapy. Our research plan involves identifying this subset of patients with autoimmune gastrointestinal dysmotility and dysautonomia, and studying them as they are managed by their gastroenterologists.The study team will administer symptom-based questionnaires in a systematic manner to assess the clinical trajectory of this population and treatment response. The investigators will also analyze laboratory values (antibody titers, tilt testing, inflammatory markers) and study pathology specimens (enteric and skin biopsies) obtained from this cohort to gain a deeper understanding of the pathogenesis of their disease.

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.

The purpose of this study is to determine whether patients with primary ciliary dyskinesia (PCD) have reduced or absent otolith function.The otolith system is a specific part of the inner ear vestibular (balance) system that detects linear movement.

OBJECTIVES: I. Characterize the clinical presentation of patients with primary ciliary dyskinesia. II. Identify the genetic mutations associated with this disease.

The main aim of the study is to evaluate upper extremity exercise capacity and muscle oxygenation in patients with primary ciliary dyskinesia. The secondary aim of the study is to evaluate respiratory function, respiratory muscle strength and endurance, peripheral muscle strength, balance, physical activity level and quality of life in patients with primary ciliary dyskinesia and compare all parameters with healthy controls.

Cytobacteriological examination of sputum and bacteriological sampling in the middle meatus.

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.

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.

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.