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.

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.

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.

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.

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

You will be asked to provide information using a computer, tablet, or smartphone that you already use to access the internet. The information you provide will be entered into a secure, online platform developed by NORD®.

All Patient Registry data will be collected, processed, and stored securely on encrypted servers in Canada for the duration the Registry exists. If the Patient Registry ends, data will be kept for an additional 7 years. When you join the Patient Registry, unique identification (ID) numbers will be assigned to legal guardians and participants. Your information in the Patient Registry will be tied to this ID number instead of your identifying information. Information that is stored with an ID number and no identifying information is called “de-identified”. Your identifying information will be stored separately and securely from the rest of your Patient Registry information that is collected.

A Registry Steering Committee oversees the conduct of the Patient Registry. This committee is made up of members from CanPKU+, patients and caregivers, health care providers, and researchers with expertise in registries. The purpose of this committee is to provide overall leadership and direction for the Patient Registry, including how the Patient Registry data are used. We will use the Patient Registry data to describe the health and well-being of patients diagnosed with rare diseases in Canada and their caregivers over time. We will also use the Patient Registry to support clinical trials. For example, the Registry can help us identify potential participants who may be eligible for a trial. We can then use Registry data to assess the short and long-term health outcomes associated with receiving a treatment. The information entered in your NORD® caregiver user profile and NORD® participant profile (which both include identifiable information) can be used by NORD® to summarize information about participants in their IAMRARE® platform. When presented, this group-level data will not identify any particular person. NORD® can also use your contact information to contact you regarding their initiatives if you consent to this option. Representatives from CanPKU+ can use the NORD® caregiver user profile and NORD® participant profile (which both include identifiable information), and additional variables as indicated in the survey Patient Registry data, to summarize information about participants in the Patient Registry. When presented, this group-level data will not identify any particular person. CanPKU+ can also use your contact information and additional information to contact you regarding their initiatives if you consent to this option. Aside from contacting you for administrative purposes, your data will always be used and presented in a manner where your identity will remain confidential. Optional secondary use of data You will be asked if you want your de-identified data to be included in external data requests. An example of an external data request would be a researcher outside of the patient organization or INFORM RARE network requesting de-identified Registry data. External requests for Patient Registry data will be reviewed by the Registry Steering Committee. In addition, data requesters will have to receive required approvals and sign agreements to use the Patient Registry data. These approvals and agreements will control how your data will be used. As a Registry participant, you will not be individually notified each time your data is used, but uses of the Registry data will be indicated on the Registry website.

If you decide to take part in the Patient Registry, your privacy will be protected and your information will be kept confidential. Except as described below, no information about you will be given to anyone or be made public without asking you first unless it is required by law (in circumstances where there is concern about the health and safety of the child). In addition to the uses of the Registry described above (see “How will my data from the Patient Registry be used?”), certain members of the Registry staff (from NORD® and the Children's Hospital of Eastern Ontario Research Institute (CHEO RI)) responsible for the administration of the Patient Registry will have access to your information, some of which will be identifiable, as needed to administer the Registry. For example, they may check that the information collected is correct or respond to questions from participants or caregivers. Members of the organizations below may also look at your Patient Registry data to check that the information collected is correct and that the Registry follows proper guidelines and laws. The data may include identifiable information. National Organization for Rare Disorders (NORD®) CHEO Research Ethics Board who oversees the ethical conduct of the Patient Registry People from CHEO who oversee the conduct of the Registry at the CHEO Research Institute This institution (CHEO RI) and affiliated sites (organizations that are part of the Children’s Hospital of Eastern Ontario), to oversee the conduct of research at this location As part of research ethics oversight, representatives from Clinical Trials Ontario, a not-for-profit organization, may see data that is sent to the research ethics board for this Patient Registry. Under no circumstance will identifiable data be shared outside of the parties listed above. All access to data by the parties listed is governed by their organizational policies and procedures. You will be able to see your data that you entered into the Patient Registry at any time when logging into the Registry platform. Even though you are being asked to provide health information, this information is not being shared with your health care team for clinical purposes. You will also be able to see group-level data from other Patient Registry participants. The group-level data will not be able to identify any particular person. Patient Registry data may be shared outside of Canada, as approved by the Registry Steering Committee. The privacy and information safety laws in those countries may be different from Canadian laws. This may increase the chance that other people can see your information. However, all data that are sent outside of Canada will be de-identified. The Registry staff will follow all Canadian privacy laws when sharing your information. If results from Patient Registry data are published, your identity will remain confidential. If identifiable information is requested to be shared, you will be contacted regarding consent for this specific use. Optional secondary use of data For approved requests for Patient Registry data, datasets will only contain non-identifiable information; none of your identifying information will be shared. Only de-identified Patient Registry data will be shared. Data requestors will agree not to attempt to re-identify anyone from the data. Data requestors will only receive Patient Registry data needed (not all Registry data) for the purpose requested. They are only allowed to use the data for the purposes they are approved for and not any other purposes. Also, they will not be permitted to disclose or transfer the data to anyone else.

There are no foreseeable physical risks associated with taking part in the Patient Registry. As the Patient Registry contains data, there is a risk that information could be misused. Since PKU is a rare disease, there is a greater risk that your information could identify you. Even though the likelihood that someone may identify you from the Patient Registry data is very small, it can never be completely eliminated. We will take all necessary precautions to make sure your privacy and confidentiality are protected and to lower the risk of misuse of your information. There are multiple technical and administrative measures in place to protect the Patient Registry data. However, the risk of being able to identify a participant can never be removed completely. You may be asked to share sensitive information in the surveys. Further, you may find it burdensome to complete the surveys. You have the option to complete the surveys or not, and you can choose not to answer certain questions if you do not want to (with no consequences to your participation). While these are the risks we can foresee, it is possible that other risks may arise in the future.

There are no direct benefits offered for participating in the Patient Registry. You may find it fulfilling to contribute to research that will uncover new knowledge about PKU. This information might help you and/or other patients with PKU, rare diseases, and their families.

To take part in the Patient Registry, you will need an electronic device with access to the internet. Otherwise, there are no costs.

You will not be directly compensated or paid for taking part in the Patient Registry. Over the course of your participation in the Registry, from time to time, you may be provided with forms of appreciation (monetary or non-monetary) for your participation. At the time of each Registry activity, further details will be provided regarding applicable compensation. It is possible that future research conducted using your data will eventually lead to the development of new products. If this happens, you will have no rights to receive payments or money from any products that may be created from the Patient Registry data or any future uses of the data.

If you have not received an e-mail within 5 to 10 minutes of registering, please reach out to us at pkuregistry@cheo.on.ca so we can help with your account activation.

First, add a participant by clicking “Add Participant” in the Navigate section on the left-hand side of the screen. Once you have filled out the information about the participant, click “SUBMIT” at the bottom of the screen. Next, click “SEARCH STUDIES” and type “The Canadian PKU Registry” in the search bar. Click “Consent & Take Surveys” to begin.

First, add another participant by clicking “Add Participant” in the Navigate section on the left-hand side of the screen. Once you have filled out the information about the participant, click “SUBMIT” at the bottom of the screen.

Click "Hi, [name]!” in the top right-hand corner of the screen and select “Manage Profile”. Update fields as necessary.

The voluntary agreement of a person to participate in research to the best of their understanding.

A caregiver is someone who provides essential support and assistance to individuals unable to fully care for themselves due to age, illness, disability, or other challenges. This support can involve various tasks and responsibilities aimed at maintaining their well-being and quality of life.

The voluntary agreement of a person, or their Legally Authorized Representative (LAR) (for example, a caregiver) on their behalf, to participate in research. The person has to be provided, and understand, all relevant information to make this informed decision.

Data that has been stripped of personally identifying information (e.g., name, date of birth, address). De-identified data is marked by a random number, known as an identification (ID) number. All data in the patient registry is tied to the participant's ID number and not their identifying information.

A secure server that converts regular information into an alternative form that hides the information’s true meaning. This makes it very difficult for someone who is not in charge of the project to access information from the server.

A legal guardian is an individual who has been appointed by a court to assume responsibility for the care, well-being, and decision-making on behalf of a minor child. For example, a parent or other caregiver.

A legally authorized representative is someone granted the legal authority to act on behalf of another person or entity in specific legal matters or decision-making situations. This designation allows them to make decisions, or act in the best interest of the individual or entity they represent, as permitted by law.

Legitimate business purposes may include viewing or reviewing data for quality assurance purposes as applicable to ensuring platform and surveys are working appropriately, assessing data/user authenticity, and evaluating system security.

“NORD content” refers to anything that has been developed by NORD® for their platform. Note: as described in section 2 (‘How will my data from the Patient Registry be used?’), the information entered in the NORD® caregiver user profile and NORD® participant profile (which both include identifiable information) can be used by NORD® to summarize information about participants in their IAMRARE® platform. When presented, this group-level data will not identify any particular person.

A patient registry is a database that stores information about a group of patients who have the same disease. Registries collect information from patients over their lifetime. This information is used to describe the disease and how it changes over time for different patients. By collecting this information in one place, the information can be used for many purposes. One purpose is to conduct research to answer questions about the condition and to inform the development of clinical trials to evaluate treatments. Registries can also be used to contact patients about research opportunities related to their disease. The ultimate goal of a patient registry is to generate evidence to improve health care and outcomes for people diagnosed with the condition.

A Research Ethics Board (REB), also known as an Institutional Review Board (IRB) in some regions, is an independent committee established within research institutions to review, approve, and oversee research involving human participants. The primary purpose of the REB is to ensure that research studies adhere to ethical guidelines and regulations, safeguarding the rights, safety, and well-being of participants. The REB assesses the research design, methods, informed consent process, and potential risks to determine whether the study meets ethical standards before it can proceed.

A sponsor is an individual, organization, or entity that provides financial, logistical, or other support for a project, activity, or individual. For The Canadian PKU Registry, the sponsors refer to CanPKU+, the Children's Hospital of Eastern Ontario Research Institute, and INFORM RARE.