Question 1

Who can participate in the Patient Registry?

Accepted Answer

Individuals diagnosed with PKU can join the Registry if they receive care in Canada and are 18 years old or younger. As a pediatric Registry, legal guardians will also be able to contribute to the Registry as the participant's caregiver. There is no limit to the number of patients who can join.  We may expand upon the Registry in the future to collect data from adult patients.

Question 2

What will happen during my participation in the Patient Registry?

Accepted Answer

You will be asked to share personal and health information in relation to the diagnosis of PKU through a secure, online platform – the NORD® IAMRARE® platform. Participation in the Registry is entirely through this online platform.

First, a legal guardian (for example, a parent) is required to set up a NORD® caregiver user account in the IAMRARE® platform using their e-mail address. Once a caregiver account is created, one or more children/adolescents with PKU can be added as Registry Participants within this caregiver account. To add a Registry Participant, the legal guardian is asked to create a NORD® Participant Profile and provide information about the participant, including identifying information (name, date of birth). After a NORD® Participant Profile is created, you will be directed to the Patient Registry. Before being enrolled in the Registry, information provided about the participant will be reviewed by the Registry staff to make sure that the participant is eligible to join. You will be notified when the review is finished and the participant is actively enrolled.

Once part of the Patient Registry, there will be surveys to be completed online. The surveys will ask about the health and personal experiences of the participating children or adolescent with PKU and their caregiver. This includes, but is not limited to, demographic information (for example, gender, race, education, employment, household characteristics), and impact of the disease on the participant and family (for example, quality of life). Depending on your personal situation (e.g., the age of the child participating in the Registry) and on the nature of each specific survey, surveys may be completed by the Participant, the caregiver, or both the Participant and caregiver together. You will receive notifications when there are surveys to fill out, and you will also receive regular reminders to complete surveys. The surveys will vary in length and time to complete – you will always have the option to save and return. Some surveys will only need to be filled out once and some will need to be filled out on a regular basis or updated over time. The more complete information we have in the Registry the more useful the Registry will be.

In addition to surveys, you will also be notified by email about other research opportunities that you are eligible to participate in. You will be able to decide whether you wish to participate in these other research opportunities. When you set your account and provide consent to join the Registry, you will also have options to be contacted by NORD® and the CanPKU+ regarding research initiatives.

You will be contacted at least once a year to provide information for the Patient Registry. There is no end date for your participation. Once a Registry Participant reaches the age of 19, there will be no new surveys to complete, but we will still ask you to keep your basic participant information up to date in order to receive invitations to participate in other research opportunities.

At this time, we are only asking you to fill out surveys. In the future, we will ask you for your permission to link clinical data from your medical charts to the Patient Registry. You will be contacted when clinical data linkage is ready to be integrated into the Patient Registry. At that time, you will have the opportunity to make an informed decision about your participation in that part of the Patient Registry.

Question 3

Can I choose to leave the Patient Registry?

Accepted Answer

It is your choice to take part in the Patient Registry or not. If you agree now, you may change your mind at any time or for any reason. You can opt-out by contacting the Registry staff. Leaving the Patient Registry will not have any effect on the care you receive.

From the date of withdrawal, no further data will be collected. For data collected up until the date of withdrawal, you can decide at that time if the data will be destroyed and removed from the Patient Registry or if the data can continue to be used in the future. Data that have already been used will not be able to be retrieved.

Question 4

What are my rights as a participant or caregiver in a Patient Registry?

Accepted Answer

You have the right to receive all information that could help you decide whether you want to take part in or continue to take part in the Patient Registry. You also have the right to ask questions about the Patient Registry at any time and to have them answered to your satisfaction.

Your rights to privacy are protected by federal, provincial and territorial laws that require that measures are in place to make sure that your privacy is respected.

Question 5

Who do I contact if I have questions?

Accepted Answer

If you have questions about taking part in the Patient Registry, you can contact the Registry staff at pkuregistry@cheo.on.ca

Frequently asked questions about Registry participation

Frequently asked questions

Who can participate in the Patient Registry?

What will happen during my participation in the Patient Registry?

Can I choose to leave the Patient Registry?

What are my rights as a participant or caregiver in a Patient Registry?

Who do I contact if I have questions?