View clinical trials related to Ciliary Motility Disorders.
Filter by: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 study is a multicenter, prospective cohort study of patients diagnosed with primary ciliary dyskinesia, the clinical information of recruited patients, including clinical manifestations, lung function, chest imaging, quality of life and other indicators, will be followed for 10 years.
1. Assessment of a high speed video camera with a green light source for the measurement of ciliary beat frequency (CBF) in the nasal airways of patients. 2. Assessments of the effect of drugs and other therapies on CBF using the study system. 3. Comparison of results with standard methods such as ciliary brush biopsies
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.
The purpose of the international prospective PCD Patient Registry is to systematically measure, survey and compare different aspects of PCD manifestation, course and treatment, to provide data for epidemiological research and to identify special patient groups suitable for multi-center trials. This International PCD Registry is also part of the European Reference Network ERN-LUNG. We follow the recommendations of the EU Expert Committee on Rare Diseases (EUCERD), which recommend an international interoperability of registries and databases to pool and exchange knowledge and data on rare diseases.
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 purpose of this study is to determine whether the medical device "simeox" is safe in the treatment of respiratory diseases, in comparison with traditional physiotherapy.
Primary ciliary dyskinesia (PCD) is a rare disease, caused by impairment of the motile cilia. Patients present with chronic upper and lower respiratory tract infections. The therapy is mainly supportive and based on that of cystic fibrosis. Chest physiotherapy is one of the cornerstones of the therapy, however the influence of chest physiotherapy on lung function (short term and long term) is not clear. For interpretation of longitudinal lung function data it is important to examine the short time effect of chest physiotherapy. We hypothesize that a session of chest physiotherapy improves lung function and that thus lung function tests must be performed in a standardized way.
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.
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.