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Ciliary Motility Disorders clinical trials

View clinical trials related to Ciliary Motility Disorders.

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NCT ID: NCT06172374 Recruiting - Clinical trials for Primary Ciliary Dyskinesia

A Study Providing Genetic Testing to Find Those Who May Have Primary Ciliary Dyskinesia for Potential Clinical Trials

Start date: August 31, 2023
Phase:
Study type: Observational

Primary purpose is to identify individuals who have PCD due to a genetic mutation within the DNAI1 and other genes of interest to help refer participants to future clinical studies for this rare disease.

NCT ID: NCT06028607 Completed - Clinical trials for Primary Ciliary Dyskinesia

Feasibility of Consumption of Nutritional Supplementation in Primary Ciliary Dyskinesia

(PCD)
Start date: May 17, 2021
Phase: N/A
Study type: Interventional

Feasibility study to understand and gain preliminary information on tolerability and palatability of an oral nutritional supplement gel in a clinical Primary Ciliary Dyskinesia population. To determine if dietary intake is affected by the consumption of the nutritional supplement. Explore possible future outcome measures that could be important in determining impact of this nutritional intervention on this patient group. Participants will be provided with the gel supplements and alongside will have other standard and non standard care measures assessed lung function (FEV1%) number of exacerbation's during study period vitamin D status Bio impedance analysis (BIA) skin-fold measures (e.g. Tricep Skin-fold (TSF) Mid upper arm circumference (MUAC) Handgrip strength (HGS) quality of life measures 6-minute walking tests. Hypothesis Patients with PCD can successfully consume 2 gel supplements per day for a period of 3 months with no effect on dietary intake.

NCT ID: NCT05951478 Recruiting - Clinical trials for Primary Ciliary Dyskinesia

DCP (RaDiCo Cohort) (RaDiCo-DCP)

DCP
Start date: May 2, 2017
Phase:
Study type: Observational

Primary Ciliary Dyskinesias (PCD) are rare, autosomal recessive respiratory diseases, due to a defect in mucociliary clearance linked to abnormalities in the structure and/or function of the cilia. The variety of ciliary abnormalities identified reflects the genetic heterogeneity of PCDs. The thirty or so genes currently implicated explain the pathology in about half of the patients. PCDs are characterized by recurrent infections of the upper (rhinosinusitis) and lower (bronchitis) airways, beginning in early childhood and progressing respectively to nasal polyposis and bronchial dilatation. In half of the cases, there is a lateralization defect of the organs (situs inversus) corresponding to Kartagener's syndrome. There is more frequent infertility in men (immobility of spermatozoa) than in women (miscarriages and tubal pregnancies). About a third of patients progress to respiratory failure. The identification of predictive factors of severity, specific to PCDs, would improve patient care. It is also important to assess the quality of life of patients with PCD, particularly at the ENT level. Data from prevalent patients are currently integrated into three separate and complementary databases: the "e-RespiRare" database, the "DCP Cils" database and the "DCP genes" database. The first step is therefore to constitute the RaDiCo-DCP database which will include data from prevalent and incident patients whose diagnosis of PCD is certain. The cohort aims to improve the routine care of PCD patients, in particular by highlighting predictive factors of severity, allowing early and personalized care, to assess the social impact (quality of life) and medical conditions of ENT impairment, as well as adult infertility, to finely characterize the ciliary phenotype. The study also aims to search for new DCP genes and to allow genotype/phenotype correlation studies.

NCT ID: NCT05932316 Recruiting - Cystic Fibrosis Clinical Trials

Evaluating Bronchodilator Response in Patients With Bronchiectasis

Start date: May 20, 2023
Phase: N/A
Study type: Interventional

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: 1. To evaluate the role of bronchodilators in BDR testing of patients with bronchiectasis. 2. Characterize and compare BDR between different subgroups of patients with bronchiectasis, and compared to patients without bronchiectasis (healthy controls). 3. 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.

NCT ID: NCT05889013 Recruiting - Clinical trials for Primary Ciliary Dyskinesia

Utility of PCD Diagnostics to Improve Clinical Care

Start date: September 27, 2023
Phase:
Study type: Observational [Patient Registry]

This cross-sectional and longitudinal observational study is to gather data on the utility of tests that are used to make a diagnosis of primary ciliary dyskinesia (PCD). There is new testing available, called nasal nitric oxide testing, that non-invasively measures nitric oxide levels in the sinus cavity. Individuals with PCD characteristically have low levels, but this testing does not have extensive data from everyday clinical practice. The objective of this proposal is to improve the diagnostic approach to children and adults with clinical concerns for primary ciliary dyskinesia (PCD).

NCT ID: NCT05816876 Completed - Clinical trials for Primary Ciliary Dyskinesia

Muscle Function, Exercise Capacity and Physical Activity Level in Primary Ciliary Dyskinesia and Kartagener Syndrome

Start date: November 10, 2016
Phase:
Study type: Observational

Studies evaluating respiratory and peripheral muscle functions in PCD patients and comparing them with healthy children are limited in the literature. There is no study investigating pulmonary and extrapulmonary effects in Kartagener syndrome, which is a form of PCD. The aim of our study is to compare respiratory functions, respiratory muscle strength and endurance, exercise capacity, peripheral muscle strength, physical activity level and quality of life in patients with PCD, Kartagener syndrome and healthy children.

NCT ID: NCT05737485 Recruiting - Clinical trials for Primary Ciliary Dyskinesia

Study Evaluating the Safety and Tolerability of RCT1100 in Healthy and PCD Subjects

Start date: February 18, 2023
Phase: Phase 1
Study type: Interventional

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

NCT ID: NCT05712798 Completed - Clinical trials for Primary Ciliary Dyskinesia

Physiological Responses to Exercise Tests in Primary Ciliary Dyskinesia Compared With Healthy Individuals

Start date: October 7, 2020
Phase:
Study type: Observational

The individuals with primary ciliary dyskinesia (PCD) have lower aerobic fitness and anaerobic performance than healthy individuals. Cardiopulmonary exercise test (CPET) provides an integrated assessment of integrative exercise responses involving the pulmonary, cardiovascular, hematopoietic, neuropsychological, and skeletal muscle systems that are not adequately reflected by measurement of the function of organ systems. Maximum oxygen consumption is measured by performing gas exchange analysis with CPET, offering an objective measure of cardiorespiratory fitness. The six-minute walk test (6MWT) and the shuttle walk test (SWT) are field tests that produce oxygen consumption results similar to those during CPET. There is a need to determine the physiological responses to CPET, SWT and 6MWT in individuals with PCD. Additionally, the physiological responses of individuals with PCD to different exercise tests will be compared with the responses of healthy individuals. Low aerobic capacity in individuals with PCD may affect the physical, emotional, and social lives of individuals. This influence may cause a decrease in the quality of life of individuals with PCD. The relationship between exercise capacity and quality of life in individuals with PSD will be investigated with this study.

NCT ID: NCT05685186 Recruiting - Clinical trials for Primary Ciliary Dyskinesia

A Longitudinal, Observational Study of Primary Ciliary Dyskinesia in Adults

Start date: March 8, 2023
Phase:
Study type: Observational

The goal of this observational study is to characterize clinical measures and biomarkers of airway disease in adults with primary ciliary dyskinesia (PCD) and in a group of healthy volunteers (HV) to establish normative values. Lung function, mucociliary clearance, radiological findings, and clinical findings will be assessed. Furthermore, quality of life will be assessed using QOL-PCD, a disease specific questionnaire.

NCT ID: NCT05374720 Recruiting - Hysterectomy Clinical Trials

Analysis of the Molecular Composition of Tubal Cilia in Patients With or Without Ectopic Pregnancy

CILTUBE
Start date: October 1, 2022
Phase: N/A
Study type: Interventional

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