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Frequently Asked Questions

PKU Patient Registry

1.What is the PKU Patient Registry?

The PKU Patient Registry is an online patient registry specifically for individuals with phenylketonuria (PKU) who have consented to share their medical information and lived experience with PKU as part of an IRB-approved research study. It is sponsored by the National PKU Alliance and hosted by the National Organization for Rare Disorders (NORD®) on their IAMRARE® platform. The PKU Patient Registry collects information from individuals who are affected by PKU. If the individual with PKU is under the age of 18, their adult family members can provide this information on their behalf.

2.What is the purpose of the PKU Patient Registry?

The purpose of the PKU Patient Registry is to bring the PKU community together and collect data to create a more comprehensive understanding of PKU and its impact on the individuals affected by it. This information can then be applied to research to assist in creating new therapies and an eventual cure, in an effort to improve the quality of life of those with PKU. Other goals of the Registry include:

  • Unite the PKU community towards a collective goal to better characterize the lived experience of having PKU
  • Describe the people who have PKU and to better understand the stages of the disease and the different ways the disease affects people. To do this, we will ask about diagnosis, treatment, medical history, social and economic environment, and treatment outcomes.
  • Provide data and insights to influence the recommendations for the standard of care and medical guidelines for PKU
  • Assist researchers studying PKU and potential new therapies
  • Serve as a means for tracking an individual’s PKU journey over time
  • To identify people with PKU who might be willing to take part in other research studies or clinical trials. You will be able to choose whether you want to hear about these other studies.

3.What is a Patient Registry?

A patient registry is a collection of standardized information about a group of patients who share the same condition. The information is used to provide data over time to support research, influence clinical management guidelines, and assist in the recruitment for research studies, such as clinical trials.

4.What is a Natural History Study?

A natural history study is a study designed to track the course of a disease over time. It includes people who have a specific medical condition or disease. It may also include those who are at risk of developing the condition/disease. This type of research identifies demographic, genetic, environmental and other information that may be common within the disease and its outcomes. A natural history study can also show the differences in symptoms and changes over time that are seen in different people with the same disease. Natural history studies often aim to find unknown similarities within the disease population. They have many potential uses such as patient care best practice development and clinical trial recruitment. Data for natural history studies are often collected via patient registries.

5.How is the data collected?

Data is collected through a secure web-based application (that can be accessed by computer, tablet or phone) developed by the National Organization for Rare Disorders, Inc. (NORD®), (learn more about NORD in question 24). Study participants respond to questions grouped within a series of surveys developed per study standards and in collaboration with disease specific experts. The platform is HIPAA-compliant*, and participants are encouraged to update their surveys at least once a year.

*HIPAA is the Health Insurance Portability and Accountability Act. This legislation protects individuals’ medical records and other identifiable health information. This requires that appropriate safeguards be in place to protects personal health information from being shared without an individual’s authorization.

6.What types of data will be collected in the PKU Patient Registry?

The data collected includes but is not limited to:

  • Socio-demographics
  • Genetics
  • Diagnosis
  • Personal and family medical histories
  • Treatment and diet
  • Quality of life
  • Laboratory data such as blood phenylalanine levels

7.Who can participate in the PKU Patient Registry?

Any individual over the age of 18 years of age with a diagnosis of PKU is able to participate in the PKU Patient Registry. The registry uses an online platform which allows participants to contribute data from anywhere in the world. Adult family members of individuals with PKU under the age of 18 years are able to serve as a legally authorized representative (LAR) in the PKU Patient Registry and respond to surveys on behalf of their child(ren). While the surveys currently offered are only in English, participants from any country are welcome to join. Individuals from other countries who enter data into the registry should be aware that data and privacy laws are different in the U.S. from other countries. This U.S. based registry will protect data and privacy according to U.S. requirements.

8.Who is a Study Participant?

A Study Participant is the individual about whom information is entered into the registry. In the case of an independent person of legal age, this individual will consent for and enter information about them self. If an individual is not of legal age or is an adult who requires someone to act on their behalf, a person (Caregiver/LAR, see below) who is legally responsible for their health care will provide consent and enter information about the Study Participant.

9.What is a Legally Authorized Representative (LAR)?

An LAR is someone who is authorized under applicable law to consent and enter data in the registry on behalf of another individual. The LAR may be a parent, grandparent, spouse, caregiver, or guardian as long as they have the legal authority to grant consent on behalf of that individual. An LAR will sign up on the IAMRARE platform with a Caregiver account. When an LAR acts on behalf of a study participant, they are considered to be the reporter in the research.

10.How can I participate in the PKU Patient Registry?

To participate in the PKU Patient Registry, go to pku.iamrare.org. You will be directed to a page to create an account and complete the necessary consent forms to participate. Once all consent forms are signed, you will then be directed to “add a participant,” in which you will add the information for the individual with PKU. You can then begin completing surveys! If you would like more step-by-step instructions for how to create an account, please click here.

11.What is an Informed Consent Form (ICF)?

An ICF is a document that provides potential participants with key information about the registry. This document helps potential participants to make a voluntary decision whether to join or not. Information will include topics such as: the risks and benefits of the research project, use of data, and participant privacy. If they choose to join the study, participants are required to electronically sign the ICF. This indicates that they agree to the terms as described before entering data into the registry or responding to surveys.

12.After consenting, can a Participant choose to stop participating in the study?

Participants are able to withdraw from the study at any time. However, researchers may still use the information that they have collected prior to the participant changing their mind. Information that has already been shared with the RDCA-DAP or other researchers prior to withdrawal cannot be retrieved or removed.

13.How are the data collected from the PKU Patient Registry used?

The data collected are extremely important to the advancement of PKU research.

  • During the consent process, Registry participants are able to opt in to receive external research notices that have been approved by the NPKUA. This subset of participants can then receive emails regarding ongoing research studies, including clinical trials, that are looking for participants with PKU. Recruitment for research studies on rare diseases is extremely difficult, so this process helps speed up the research process, ultimately bringing new therapies and tools to market faster.
  • The data can also be used to support research projects by providing a snapshot of the PKU community’s medical information and insight into the lived experiences of PKU. This information becomes more meaningful as more participants join the Registry and as participants provide more data over time. Data are also used to influence the creation of medical guidelines and with the advancement of management for PKU and programming at the NPKUA.

14.How often am I supposed to be updating my surveys in the PKU Patient Registry?

Ideally, we ask Registry participants to update their surveys at least once a year. We understand that living with or caring for someone with PKU is very time-consuming and that updating the Registry is another thing on your long to-do lists. However, the data are vital to propelling PKU research forward and to giving a voice to this community. The data collected are more meaningful over time, rather than singular entries, so we encourage participants to provide more data points throughout their PKU journey. If you would like to see more detailed instructions about how to update your surveys, please click here.

15.What surveys are most important to update regularly?

While we encourage Registry participants to update as many of their surveys as possible, we wanted to highlight the most important surveys to update frequently:

  • Treatment and diet
  • Blood Phe levels
  • Education
  • Medical history
  • Research trials
  • Uploads – this survey allows you to upload any relevant documents along with your survey response (eg. if you complete the “Patient Reported Genetics” survey and have a copy of your genetic test report, you can explore it here.)

16.What surveys likely only need to be completed once?

The information requested in the following surveys is not expected to change in a participant’s lifetime, so it is expected that they only need to be completed once.

  • Diagnosis
  • Patient reported genetics (complete after receiving genetic testing)
    • For more information about what genetic testing is and why it is important please click here.
    • If you are an adult with a financial barrier to genetic testing, you can learn about the NPKUA Genetic Testing Program here.

The information requested in the following surveys is only expected to change after a major life event (ie. moving, marriage, etc.), so these surveys are not anticipated to require an annual update unless there has been a change.

  • About the participant
  • Contact information
  • Demographics
  • Family history
  • Insurance
  • Female reproductive health
  • Maternal PKU

17.What is a Research Study Sponsor?

A Research Study Sponsor is an individual, company, institution, or organization. They are responsible for choosing appropriately trained and experienced researchers to conduct the study. They are also responsible for the initiation and management of a research study. Additionally, the sponsor is responsible for the costs associated with conducting a registry study. They ensure that the study is conducted in a reputable, ethical manner and upholds regulations as they apply to the study. The sponsor of this registry is the National PKU Alliance (NPKUA).

18.Who is NPKUA?

The NPKUA is a non-profit organization created to support individuals with PKU and their families. The NPKUA was founded in 2008 by parents and grandparents of people with PKU to unite local organizations across the United States. The organization’s mission is to improve the lives of individuals with PKU, pursue a cure by expanding research, and provide education and support to individuals living with PKU and their caregivers. To learn more about the NPKUA visit http://www.npkua.org/.

19.What is a Principal Investigator?

The Principal Investigator is the person with the primary responsibility for the design and conduct of the research project or study. The PI is responsible for oversight of all aspects pertaining to the conduct of the Registry, its staff and the research on the data contained within.

20.What is an Institutional Review Board (IRB)?

An IRB is a board formally designated by an institution or investigator to review, approve the initiation of, and conduct periodic review of research involving people. The primary purpose of such an assessment is to assure the protection of the rights and welfare of the participants in the study. This is also known as an Ethics Committee (EC) or Research Ethics Board (REB in Canada).

21.What is a Registry Advisory Board?

A Registry Advisory Board is a committee that may include scientists, doctors, and patient advocates. They oversee the conduct of the study. The board advises on the development of surveys and reviews combined registry data and the use of this registry. They will ensure proper evaluation of all research requests for use of the registry data. They will also review any protocol or confidentiality deviations and ensure that any such deviations are reported to the IRB.

22.Is there a cost to participate?

There is no cost to the patient to join this study.

23.Is there a payment for participating?

You will not be paid for the information you provide.

24.How long will this study last?

A registry on the IAMRARE platform will typically be open for at least five years. Participants will be asked to return to the registry periodically to update their information.

25.Where is the data stored?

NORD stores Sponsor and Participant Registry Data on NORD encrypted servers and/or encrypted servers of third-party vendors hosted in Canada. Regular back-up at commercially acceptable intervals is provided. These servers meet industry standards and are compliant with US and international regulations, including GDPR.

26.Is the data safe?

The registry follows strict government guidelines to assure patient information is protected. The platform is served over HTTPS, which means that the data is encrypted when being sent from the user’s browser to the NORD servers. The data is also kept encrypted in the NORD database. Communications between the registry platform application server and the database are also encrypted. As with any information you provide electronically, there is a very rare chance that your privacy could be compromised. However, the registry and the security measures minimize the chance of this occurring.

27.Who owns the data?

The study data are owned by the study sponsor, the NPKUA. The NPKUA decides how and with whom to share the data. NORD staff will have access to the data for activities related to support and maintenance of the Platform and will collect Platform-wide participation statistics. The specifics will be outlined in your informed consent.

28.Who will have access to Protected Health Information (PHI)?

All data, including those with PHI, will be stored in a password protected secure server. Access to PHI will be limited to:

  • Approved members of the PKU Patient Registry research team
  • NORD staff, in cases where technical support is needed and with the permission of registry staff
  • With agreement from the Sponsor, NORD may conduct IRB-approved, cross-disease research using registry data.

In all cases, your privacy will be protected. The Registry Advisory Board will evaluate all requests for data from researchers. Researchers will only be provided with the minimum data necessary to accomplish their research study goals. The researchers will be required to sign a Confidentiality Agreement in which they promise to keep your information safe.

29.What are the GDPR considerations?

For individuals living outside the United States who choose to share information about themselves, the same protections for privacy and confidentiality are offered as in the United States. Residents of the European Union and Switzerland have additional particular rights related to personal information. This information is disclosed within the informed consent document. If an individual signs this document, they acknowledge that they are disclosing information that would otherwise be private. Privacy laws in an individual’s country may have different protections than those provided in the United States.

Registry participants who are residents of the European Union and Switzerland are entitled to:

  • Request to obtain access to and rectification or erasure of personal data;
  • Receive personal data in a portable, readily-accessible format;
  • Restrict or withdraw permission for the processing of personal information; and
  • Lodge a complaint with an appropriate supervisory authority.

30.How is the registry maintained?

The registry is maintained by NORD who hosts the registry on its web-based application. NORD provides ongoing technical support of the system. The NPKUA provides the day-to-day management of their patient registry.

31.Who is NORD – the National Organization for Rare Disorders, Inc.?

NORD, an independent nonprofit, is leading the fight to improve the lives of rare disease patients and families. We do this by supporting the rare community, its people, and organizations. We work together to accelerate research, raise awareness, provide valuable information, and drive public policy that benefits the estimated 25-30 million Americans impacted by rare diseases.
Learn more about NORD at https://rarediseases.org/.