The purpose of the international prospective PCD Patient Registry is to systematically measure, survey and compare different aspects of PCD manifestation, course and treatment, to provide data for epidemiological research and to identify special patient groups suitable for multi-center trials. This International PCD Registry is also part of the European Reference Network ERN-LUNG. We follow the recommendations of the EU Expert Committee on Rare Diseases (EUCERD), which recommend an international interoperability of registries and databases to pool and exchange knowledge and data on rare diseases.

Population

Individuals with a diagnosis of Primary Ciliary Dyskinesia.

Brief Title

International Primary Ciliary Dyskinesia (PCD) Registry

Official Title

International Prospective Primary Ciliary Dyskinesia (PCD) Registry for Systematic Data Collection on Incidence, Clinical Presentation, Treatment and Course of the Disease

Brief Summary

The purpose of the international prospective PCD Patient Registry is to systematically <br /> measure, survey and compare different aspects of PCD manifestation, course and treatment, to <br /> provide data for epidemiological research and to identify special patient groups suitable for <br /> multi-center trials. <br /> <br /> This International PCD Registry is also part of the European Reference Network ERN-LUNG. We <br /> follow the recommendations of the EU Expert Committee on Rare Diseases (EUCERD), which <br /> recommend an international interoperability of registries and databases to pool and exchange <br /> knowledge and data on rare diseases.

Detailed Description

PCD is a rare disorder of mucociliary clearance caused by defective hair like organelles
(cilia). The purpose of the PCD Registry is to measure, survey and compare different aspects
of PCD manifestation, course and treatment, to provide data for epidemiological research and
to identify special patient groups suitable for multi-centre trials.

The PCD Registry is part of the European Reference Network for Rare Lung Diseases ERN-LUNG
(https://ern-lung.eu/). We follow the recommendations of the EU Expert Committee on Rare
Diseases (EUCERD), which recommend an international interoperability of registries and
databases to pool and exchange knowledge and data on rare diseases.

How can the data be entered to the registry? The data can either be entered into the PCD
Registry directly after login, or imported via a specific *CSV file that we provide in
advance (download option after Log In or e-mail request to PCDregistry.eu@ukmuenster.de,
Simone.Helms@ukmuenster.de or Petra.Pennekamp@ukmuenster.de).

Under special circumstances (e.g. import of existing datasets from other registries/cohorts)
we provide support to enter your data. The PCD Registry is accessible from the web. Each
authorised operator is able to enter the data for their country/centre and export own center
specific data to different formats (CSV/Microsoft Excel, PDF, SAS, Stata, R, ODM or SPSS).

A highly protected system will ensure data protection through the encryption of data.
Identifying patient data are not collected in the PCD Registry.

Where are the data stored? At the University of Muenster, Institute of Medical Informatics -
Informatics for personalised medicine (IMI). A server is located in secure premises, where
access is allowed to authorized personnel only. Data storage is in agreement with EU data
protection legislation.

How to become a PCD Registry Centre? In order to get assigned as a referring centre please
contact the administration under PCDregistry.eu@ukmuenster.de, Simone.Helms@ukmuenster.de and
Petra.Pennekamp@ukmuenster.de.

Information for PCD Patients:

Why do we need a PCD Registry? Registries are the only way to pool data in the field of Rare
Diseases (RD) such as PCD in order to achieve a sufficient sample size for epidemiological
and/or clinical research. RD Registries such as the PCD Registry constitute key instruments
to develop clinical research in the field of RD, to improve patient care and healthcare
planning. RD Registries such as the PCD Registry are vital to assess the feasibility of
clinical trials, to facilitate the planning of appropriate clinical trials and to support the
enrolment of patients.

Why should I as a patient participate? Patient involvement is the key factor in the
establishment of any patient registry, especially RD Registries. For the purpose of the above
aims, we need as many patients in the PCD Registry as possible in order to make sure that
data are representative of the whole spectrum of the disease and to have enough patients to
render research possible - research that may benefit you or other patients in the future.

I you - as a patient - have further questions please do not hesitate to contact us.

Which data are collected? We collect demographic data (e.g. current age, sex, age, diagnostic
findings and symptoms at diagnosis) but also clinical data which are recorded (e.g. lung
function, weight, height, infections, treatment and complications). The data are collected
using a common set of definitions, following the recommendations of the EU Expert Committee
on Rare Diseases (EUCERD). This ensured international interoperability of registries and
databases to pool and exchange knowledge and data on rare diseases.

Ways to register:

Registration will be performed by the treating physician via password-secured access. The
access authorization, as well as the necessary password will be passed on by the PCD Registry
administrator (Simone.Helms@ukmuenster.de).

Information about data security:

To ensure that patients are not accidentally registered twice and to take into account a
changing of caring physician, personal data such as month and year of birth have to be
included in the first step of patient registration. These will be directly transferred into a
Patient identification-Code (PID) and automatically generated pseudonym. Tracking a patient's
identification with the PID is impossible. Other identifying data such name, initials or day
of birth will not be nor recorded. Data saving underlies the regulations for data security
laws and the medical confidentiality. International regulations for good clinical practice
(GCP) always apply. Unauthorized third parties will not have access to registry data.

Inclusion criteria:

The PCD Patient Registry is a longitudinal study. It recruits all prevalent subjects with PCD
and all subsequent incident cases. Patients who fulfil the diagnostic criteria below should
be included in the registry

- Clinical presentation consistent with PCD and

- Confirmation of the diagnose by at least two of the following methods

- abnormally low nasal NO concentration/production

- abnormal high frequency video microscopic (HVMA) finding

- abnormal immunofluorescence (IF) finding

- demonstration of biallelic disease-causing mutations by genotyping (Note: in those
cases, where genetic diagnosis is not possible because of financial or structural
issues, genetic diagnosis can be offered in the framework of a research project)

- abnormal transmission electron microscopy (TEM) finding (Note: if only high frequency
video microscopy and nasal NO concentration/production are abnormal, high frequency
video microscopy should be repeated at least three times and show the same abnormal
results each time)

Given the complexity of diagnosing PCD, not all patients will meet the above mentioned
definite diagnostic criteria. Therefore, individuals with typical clinical symptoms and only
one abnormal diagnostic test are also eligible to enter the registry.

Ethics and Patient Confidentiality:

Obtaining the necessary patient consents is a prerequisite for entering data in the PCD
Registry. As legislation differs in each participating country, it is important to check the
requirements with your local Data Protection Officers and Ethics Committees. If you have any
questions, please contact PCDregistry.eu@ukmuenster.de or Simone.Helms@ukmuenster.de. You
will get support for the Ethics Committee approval procedure, e.g. sample consent forms for
Patient Information and Consent. Patients can only be entered into the PCD Registry once you
have received their signed, informed consent to do so. Please store all the consent forms
that your patients have signed safely at your local institution. It is the responsibility of
the reporting centres/countries/registries to have the acquired permissions to export/report
data to the PCD Registry.

Data Security:

Due to data protection regulations, the data stored in the server of the PCD Registry must be
anonymous (i.e. the patient must not be identifiable). Therefore, the authorised operator has
to keep a logbook with the identifying patient data and the code generated by the registry
software. It is your responsibility to make sure that access to this list of names and
matching patient codes is restricted to authorized personnel only. Furthermore, please note
that if your list of matching codes and full names is lost, it will be impossible to retrieve
the data identification by means of the PCD Registry software. Moreover, data are encrypted
(i.e. not de-codable) when transmitted. The PCD Registry is protected according to EU Data
Protection legislation, both physically and technically, and backup is secured.

Funding:

The establishment of the PCD Registry was part of the EU funded BESTCILIA project (FP7
2007-2013) under grant agreement no 305404 (BESTCILIA). Funding continues within several
projects including REGISTRY WAREHOUSE (HORIZON2020, GA no 777295)

About us:

The PCD Registry has been designed and established by the BESTCILIA consortium headed by
Heymut Omran, University Children's Hospital Muenster, Department of General Pediatrics,
Muenster, Germany and is part of the European Reference Network on Rare Lung Diseases
ERN-LUNG. For more information, please contact PCDregistry.eu@ukmuenster.de
Simone.Helms@ukmuenster.de, Petra.Pennekamp@ukmuenster.de or Johanna.Raidt@ukmuenster.de

Outcome Measures

Outcome measures are the tests that investigators perform to prove whether or not a treatment being tested in a clinical trial is having any effect.