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Last Updated: 09/18/2022

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13 Clinical Trials
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Diagnostic and Clinical Characterization of Patients With Unusual Genetic Disorders of the Airways

Summary: 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 unders...

Measurement of the Prevalence of Sensory Integration Disorders in Babies Having Heart Disease Surgery for Transposition of the Great Vessels Before 6 Months of Age

Summary: The purpose of this study is to mesure the prevalence of severe sensory integration disorders in babies after one week of their heart surgery.

An International Study on Genotype/Phenotype Correlation With Focus on Lung Function in Patients With Primary Ciliary Dyskinesia (PCD)

Summary: 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...

The Ear-Nose-Throat (ENT) Prospective International Cohort of PCD Patients (EPIC-PCD)

Summary: The Ear-Nose-Throat (ENT) Prospective International Cohort of patients with Primary Ciliary Dyskinesia (EPIC-PCD) is a prospective observational clinical cohort study, set up as a multinational multi-centre study. It is embedded into routine patient care of participating reference centres for PCD and patients keep being managed according to local procedures and guidelines.

Longitudinal Characterization of Respiratory Tract Exacerbations and Treatment Responses in Primary Ciliary Dyskinesia

Summary: The overall objective of this longitudinal, observational study is to provide information needed to inform the design of future interventional trials of respiratory exacerbation prevention and treatment in children and adults with primary ciliary dyskinesia (PCD).

Characterizing the Upper Airway Manifestations in Primary Ciliary Dyskinesia and Primary Immunodeficiencies

Summary: Though common, morbidities related to upper airway disease in primary ciliary dyskinesia (PCD) and primary immunodeficiencies (PID) have not been fully characterized. These conditions can be difficult to distinguish due to their overlapping phenotypes. The sinonasal and middle ear features are often identified as most problematic by patients and their families, and optimal, highly effective treatm...

Defining the Genetic Etiology of Suppurative Lung Disease in Children and Adults

Summary: The investigators will utilize a systematic approach for the diagnostic evaluation of patients to identify characteristics which may distinguish between Primary Immunodeficiency (PID) disorders versus Primary Ciliary Dyskinesia (PCD).

Right Ventricular Function After Coronary Artery Bypass Grafting The SWEDEGRAFT Right-Heart-Substudy

Summary: BACKGROUND~Right ventricular dysfunction is a common echocardiographic finding after cardiac surgery. Pericardial disruption has been suggested as the most probable cause as the phenomenon occurs within minutes after pericardial incision.~The investigators suspect that validated two-dimensional echocardiographic measures for right ventricular function might not reflect the altered RV contraction p...

Spironolactone Therapy in Chronic Stable Right HF Trial

Summary: The purpose of this study is to evaluate the safety, tolerability and mechanistic effects of spironolactone, an aldosterone receptor antagonist, on sympathetic nervous system activity and right heart function and remodeling in patients with chronic right heart failure.

International Primary Ciliary Dyskinesia Cohort

Summary: The iPCD Cohort is a retrospective international cohort that assembles available datasets with 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.

Swiss Primary Ciliary Dyskinesia Registry

Summary: 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.

High or Low. Nasal Nitric Oxide Across Mutations in Primary Ciliary Dyskinesia. A Genotype/Phenotype Analysis of Nasal NO in Patients With PCD Within the European Reference Network (ERN)

Summary: 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...
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Last Updated: 09/18/2022