Registry for Primary Ciliary Dyskinesia

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

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.

Study Overview

• Status: Completed
• Conditions: Primary Ciliary Dyskinesia

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.

• Study Type: Observational
• Enrollment (Actual): 12

Contacts and Locations

• Study Contact: Name: Israel Amirav, M.D; Phone Number: 7808840296; Email: amirav@ualberta.ca

Study Locations

• Canada
  • Alberta
    • Edmonton, Alberta, Canada, T6G2C6
      • University of Alberta

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients with PCD

Description

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.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Age of diagnosis	Years	2017-2030
Lung Function	% predicted for age	2017-2030

Collaborators and Investigators

• Sponsor: University of Alberta
• Investigators: Principal Investigator: Israel Amirav, MD, University of Alberta

Study record dates

Study Major Dates

• Study Start (Actual): August 26, 2017
• Primary Completion (Actual): November 25, 2021
• Study Completion (Actual): November 25, 2021

Study Registration Dates

• First Submitted: August 26, 2017
• First Submitted That Met QC Criteria: August 31, 2017
• First Posted (Actual): September 5, 2017

Study Record Updates

• Last Update Posted (Actual): June 6, 2023
• Last Update Submitted That Met QC Criteria: June 5, 2023
• Last Verified: June 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Respiratory Tract Diseases; Neurologic Manifestations; Congenital Abnormalities; Genetic Diseases, Inborn; Otorhinolaryngologic Diseases; Movement Disorders; Abnormalities, Multiple; Ciliopathies; Dyskinesias; Ciliary Motility Disorders
• Other Study ID Numbers: pro00074669

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No