Registry for Primary Ciliary Dyskinesia

Completed

• Conditions: Primary Ciliary Dyskinesia

• Registration Number: NCT03271840
• Lead Sponsor: University of Alberta

Brief Summary

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.

Detailed Description

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.

Basic Information
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Recruitment & Eligibility
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Study & Design
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Trial Locations

Study Timeline

• Study Start: 2017-08-26
• Study First Submitted: 2017-08-26
• Study First Submitted QC: 2017-08-31
• Study First Posted: 2017-09-05
• Primary Completion: 2021-11-25
• Study Completion: 2021-11-25
• Status Verified: 2023-06
• Last Update Submitted: 2023-06-05
• Last Update Posted: 2023-06-06

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 12

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.

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Exclusion Criteria

• Failure or unwillingness to give written informed consent.

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Age of diagnosis	2017-2030	Years
Lung Function	2017-2030	% predicted for age

Trial Locations

Locations (1)

University of Alberta; 🇨🇦 Edmonton, Alberta, Canada