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Registry for Primary Ciliary Dyskinesia

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03271840
Recruitment Status : Recruiting
First Posted : September 5, 2017
Last Update Posted : October 18, 2018
Information provided by (Responsible Party):
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.

Condition or disease
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.

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 30 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 10 Years
Official Title: Registry for Primary Ciliary Dyskinesia: : Systematic Data Collection on Incidence, Clinical Presentation, Treatment and Course of the Disease
Actual Study Start Date : August 26, 2017
Estimated Primary Completion Date : January 2030
Estimated Study Completion Date : December 31, 2030

Primary Outcome Measures :
  1. Age of diagnosis [ Time Frame: 2017-2030 ]

  2. Lung Function [ Time Frame: 2017-2030 ]
    % predicted for age

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with PCD

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03271840

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Contact: Israel Amirav, M.D 7808840296

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Canada, Alberta
University of Alberta Recruiting
Edmonton, Alberta, Canada, T6G2C6
Contact: Israel Amirav    7808840296   
Sponsors and Collaborators
University of Alberta
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Principal Investigator: Israel Amirav, MD University of Alberta

Additional Information:

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Responsible Party: University of Alberta Identifier: NCT03271840     History of Changes
Other Study ID Numbers: pro00074669
First Posted: September 5, 2017    Key Record Dates
Last Update Posted: October 18, 2018
Last Verified: August 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:
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Ciliary Motility Disorders
Kartagener Syndrome
Movement Disorders
Central Nervous System Diseases
Nervous System Diseases
Neurologic Manifestations
Signs and Symptoms
Respiratory Tract Diseases
Otorhinolaryngologic Diseases
Abnormalities, Multiple
Congenital Abnormalities
Genetic Diseases, Inborn
Bronchial Diseases
Respiratory System Abnormalities
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Situs Inversus