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Last Updated: 12/17/2024
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).
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...
Transposition of the Great Arteries: Prenatal Anatomical and Hemodynamic Findings Associated With Perinatal Outcomes
Summary: This prospective study will examine whether transient maternal hyperoxygenation is useful as a diagnostic test to more accurately detect TGA patients with poor vs. good neonatal intra-cardiac mixing of blood, based on the in-utero response to oxygen exposure. This study is Health Canada regulated
International Primary Ciliary Dyskinesia Cohort
Summary: The iPCD Cohort is an international cohort that assembles available retrospective datasets and prospectively newly collected 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.
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.
Primary Ciliary Dyskinesias: Identification of Specific Severity Criteria and Phenotype-genotype Correlation Study
Summary: 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 char...
Analysis of the Molecular Composition of Tubal Cilia in Patients With or Without Ectopic Pregnancy
Summary: 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
Last Updated: 12/17/2024