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Frequently Asked Questions

APS Type 1 (APECED)

Frequently Asked Questions

1. What is a Patient Registry?

A patient registry is a collection of standardized information about a group of patients who share a condition and is used for a variety of purposes such as conducting natural history studies and supporting disease specific clinical trial recruitment.

2. 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.

3. 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 APS Type 1 Foundation.

4. What is a Principal Investigator?

The Principal Investigator (PI) 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.

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

An Institutional Review Board (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).

6. What is the purpose of the APS Type 1 (APECED) Registry?

One of the most important purposes of the APS Type 1 (APECED) Registry is to identify new APS Type 1 patients, and to bring the APS Type 1 community together and collect data that could be used to create therapeutics and improve the quality of life for patients. Some other goals of the APS Type 1 (APECED) are:

  • To describe the people who have or may have APS Type 1 and how APS Type 1 may be different for different people
  • To understand the stages of APS Type 1 and how it changes over a person’s lifetime
  • To learn how APS Type 1 is treated and how people respond to those treatments
  • To learn how to best care for and treat people with APS Type 1
  • To identify people with APS Type 1 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

7. What types of data will be collected in the APS Type 1 (APECED) Registry?

The data collected is uniform and includes but is not limited to:

  • Socio-demographics
  • Medical and diagnostics
  • Treatment and disease progression
  • Management of care
  • Quality of life

8. How is the data collected?

Data is collected through a secure web-based system developed by the National Organization for Rare Disorders (NORD), an independent non-profit committed to the identification, treatment, and cure of all 7,000 rare diseases. Study participants respond to questions grouped within a series of surveys developed per study standards and in collaboration with disease specific experts.

9. 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 themself. 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.

10. What is a legally authorized representative (LAR)?

A legally authorized representative (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.

11. What is a Designated Representative?

A designated representative is a legal adult who was the caretaker of an individual who passed away from APS Type 1. This may be a spouse, parent, sibling, offspring, close relative, close friend, guardian and/or significant other of this individual. This person must have had knowledge of and participated in the medical care of the deceased. These individuals are permitted to enter retrospective data on their behalf.

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

An informed written consent form (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.

13. 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.

14. Can data be collected worldwide?

The patient registry uses an online platform which allows participants to contribute data from anywhere in the world. International participants are afforded the same protections for privacy and confidentiality are as domestic participants. However, the registry has not been designed to be compliant with the laws of any jurisdiction other than the United States.

15. Where is the data stored?

The data is stored on NORD’s registry platform system, which adheres to industry standards regarding security protections.

16. 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.

17. Who owns the data?

The study data are owned by the study sponsor, The APS Type 1 Foundation. The APS Type 1 Foundation 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.

18. How is the Patient Registry maintained?

The registry is maintained by NORD, which hosts the registry on its cloud-based Platform and provides oversight and ongoing support of the system. The APS Type 1 Foundation Inc. provides the day-to-day management of its patient registry, including the development and adherence to the study procedures.

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

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

  • Approved members of the APS Type 1 (APECED) 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 Committee will evaluate all requests for data from researchers. Researchers will only be provided with the minimum data necessary to accomplish their research study goals. Data containing PHI will only be shared if the research cannot be done without it. The researchers will be required to sign a Confidentiality Agreement in which they promise to keep your information safe.

20. 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.

For persons who are residents of the United Kingdom, transfers of the participant party’s personal information outside of the United Kingdom will comply with, the United Kingdom’s GDPR rules which became effective in 2021. The UK GDPR absorbs the privacy compliance requirements of the GDPR and combines them with the requirements of the United Kingdom’s Data Protection Act of 2018.

21. What is a Registry Advisory Committee?

A registry advisory committee 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 the 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. Who can join the registry?

The registry is open to anyone who has a confirmed APS Type 1 diagnosis and meets the study inclusion criteria for participation.

The registry is also open to individuals of all ages with a suspected diagnosis of APS Type 1. Suspicion of an APS Type 1 diagnosis is on the basis of any one or more of the following:

  • Having a clinical diagnosis of Hypoparathyroidism (based on decreased plasma calcium, elevated plasma phosphate, and decreased or absent plasma intact parathyroid hormone) diagnosed at any age.
  • Having a clinical diagnosis of any one or more of the following disease-defining characteristics first arising before the age of 20:
    • Chronic Mucocutaneous Candidiasis (CMC)
    • Addison’s Disease (adrenal insufficiency)
    • Enamel Hypoplasia
    • Pneumonitis
    • Autoimmune Hepatitis
    • Keratoconjunctivitis
    • Severe Fat Malabsorption
  • Having a first-degree family member (parent, child, sibling) with a confirmed APS Type 1 diagnosis.

23. Is there a cost to participate?

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

24. Is there a payment for participating?

You will not be paid for the information you provide.

25. 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.

26. Who is The APS Type 1 Foundation Inc.?

The APS Type 1 Foundation Inc., a 501(c)(3) organization, was established in 2014 in New York to promote education, awareness, and research in Autoimmune Polyglandular Syndrome Type 1 (APS Type 1 or APECED). The Foundation sponsors research through NORD’s directed grants, organizes a bi-annual International Symposium on APS Type 1 and supports a growing community through its website (https://www.aps1foundation.org/).

27. Who is NORD – the National Organization for Rare Disorders?

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/.