Registry for Primary Ciliary Dyskinesia

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.

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Key information

Conditions

Primary Ciliary Dyskinesia Abnormalities, Multiple Ciliary Motility Disorders Ciliopathies Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Otorhinolaryngologic Diseases Respiratory Tract Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

University of Alberta

Edmonton, Alberta, T6G2C6, Canada

About this study

In order to better characterize the clinical course, and improve the diagnosis and treatment of PCD, the investigators propose to establish a provincial PCD registry in Alberta. This registry will be securely linked to the currently existing International Registry for PCD and will allow more researchers to use the information to do research on PCD.

The investigators will collect demographic data: current age, sex, age, diagnostic findings and symptoms at diagnosis; in addition, clinical data about PCD which are recorded during the past and future clinical visits and encounters (e.g. lung function, weight, height, infections, treatments, and complications) will also be collected.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Clinical diagnosis of PCD
Abnormal findings in at least two of the following tests:

High-frequency video microscopic finding, transmission electron microscopy finding, immunofluorescence finding, low nasal NO concentration/production, demonstration of biallelic disease-causing mutations by genotyping.

Exclusion criteria

Failure or unwillingness to give written informed consent.

Treatment and study plan

Primary outcomes

Age of diagnosis

Time frame: 2017-2030

Years
Lung Function

Time frame: 2017-2030

% predicted for age

Sponsors and collaborators

Lead sponsor

University of Alberta

Other

Registry information

Official study title

Registry for Primary Ciliary Dyskinesia: : Systematic Data Collection on Incidence, Clinical Presentation, Treatment and Course of the Disease

Important dates

Study start: 2017
Primary completion: 2021
Study completion: 2021
First posted: Sep 5, 2017
Registry last updated: Jun 6, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

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