We are thrilled to announce the official launch of the APS Type 1 (APECED) Registry in celebration of World Rare Disease Day 2019.

The APS Type 1 (APECED) Registry is a secure database that provides a way to collect information from many different people with APS Type 1 and to update information over time as conditions and experiences change. Patients or their legally authorized representatives can enter important patient data into the database by completing different online surveys. These surveys can be completed at your own pace. You can start and stop by saving your progress. The surveys are intended to gather information about many different aspects of APS Type 1, including details about diagnosis, prognosis, treatments, which disorders the patient has and when they were acquired, medications, hospitalizations and quality of life. There are some general surveys as well that will collect profile and socio-demographic information. As the registry develops, we plan to add additional surveys to meet the needs of our research community and to respond to the data collected. All information will remain private and will not be linked to your name or any other identifiers. Researchers will have access only to de-identified data after review and approval by our registry advisory committee.

We hope that information collected in this registry will help researchers better understand APS Type 1 and be able to better diagnose and treat the conditions caused by APS Type 1.

Who Can Participate In The Registry?

Patients of all ages with a confirmed diagnosis of APS Type 1 are eligible for inclusion in the registry. APS Type 1 is defined as:

  • Genetic diagnosis of APS Type 1 via identification of biallelic AIRE mutations
    AND/OR-
  • Clinical diagnosis of disease defining characteristics (at least 2 of 3 of the following):
    • Chronic Mucocutaneous Candidiasis (CMC) (based on recurrent episodes of Candida infections of the mucous membranes, skin, and/or nails)
    • Hypoparathyroidism (based on decreased plasma calcium, elevated plasma phosphate, and decreased or absent plasma intact parathyroid hormone)
    • Addison’s Disease (adrenal insufficiency) (based on decreased plasma cortisol concentrations upon ACTH stimulation)

Patients of all ages with a suspected diagnosis of APS Type 1 are eligible for inclusion. For purposes of this registry, suspicion of an APS Type 1 diagnosis is on the basis of:

  • 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.
    OR

    • Chronic Mucocutaneous Candidiasis (CMC)
    • Addison’s Disease (adrenal insufficiency)
    • Enamel Hypoplasia (tooth enamel dystrophy or nail dysplasia)
    • Pneumonitis (lung inflammation)
    • Autoimmune Hepatitis (liver inflammation)
    • Keratoconjunctivitis (eye inflammation)
    • Severe Fat MalabsorptionHaving a clinical diagnosis of any one or more of the following disease defining characteristics first arising before the age of 20:
      OR
  • Having a first-degree family member (parent, child, sibling) with a confirmed diagnosis of APS Type 1.

Why Is The Registry Important?

Patient registries have been shown to help speed the development of better treatments and ultimately improve patient outcomes. The APS Type 1 (APECED) Registry will:

  • Provide a convenient online platform for patients or their legally authorized representatives to report cases of APS Type 1.
  • Conduct a prospectively-planned natural history study that will result in the most comprehensive understanding of APS Type 1 and its progression over time.
  • Characterize and describe the APS Type 1 population as a whole.
  • Assist the APS Type 1 community with the development of recommendations for standards of care.
  • Assist researchers studying the pathophysiology of APS Type 1.
  • Support the design of clinical trials that explore new APS Type 1 treatments.

It is our hope that the registry will help build our community and allow us to make better connections with each other. We know what a hard journey APS Type 1 be for patients and families. We want to help support your journey. Take this journey with you as much as we can and support you through it. If you are not in touch with other APS Type 1 families and would like to be, we can help you get connected. If you are looking for a physician in your local area who is knowledgeable about APS Type 1, we can try to assist. Please check back often as we will update the News page with study information and other relevant APS Type 1 news and resources. If you have ideas for information that you would like to have covered there, please contact us at registry@apstype1.org.

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 and includes people who have a specific medical condition or disease and those who are at risk of developing such. This method of research explores the disease in a comprehensive way and identifies demographic, genetic, environmental, and other variables that correlate with the disease and its outcomes. Natural history studies have many potential uses such as patient care best practice developments and clinical trial recruitment.

3. What is a Research Study Sponsor?

The National Health Service defines a study sponsor as, “… the individual, company, institution or organization, which takes on ultimate responsibility for the initiation, management […] of and/or financing […] for that research.”1 The Study Sponsor ensures that the study is conducted in a reputable manner and upholds regulations as they apply to the study.

4. What is a Principal Investigator?

The Principal Investigator is the research group leader or, the person with the primary responsibility for the design and conduct of the research project or study.

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

According to the Mayo Clinic an IRB is, “[a] specifically constituted review body established to protect the rights and welfare of human subjects recruited to participate in biomedical or behavioral/social science research.”2 The oversight of an IRB ensures that an online natural history study that collects and shares patient data to advance rare disease research is ethical and safe.

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:

  • Determine how many people are living with APS Type 1.
  • Conduct a prospectively-planned natural history study that will result in the most comprehensive understanding of APS Type 1 and its progression over time.
  • Characterize and describe the APS Type 1 population as a whole.
  • Assist the APS Type 1 community with the development of recommendations for standards of care and diagnosis.
  • Assist researchers studying the pathophysiology of APS Type 1.
  • Assist researchers studying interventional outcomes.
  • Support the design of clinical trials for new treatments.

7. What types of data will be collected in the APS Type 1 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 who takes part in a research study and whose information is collected for that research. Study participants may consent to enter and share their own personal data.

10. Who is a reporter/respondent?

A reporter/respondent is an individual who completes the surveys on behalf of the patient/study participant, when he or she is unable to do so on his or her own behalf.

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

A legally authorized representative is an individual who, under law, has the ability to act on behalf of another person (such as a minor study participant). The LAR may be a parent, grandparent, or caregiver who has the legal authority to grant consent on behalf of another who has been invited to participate in research.

12. 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 complaint compliant with the laws of any jurisdiction other than the United States.

13. Where is the data stored?

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

14. Is the data safe?

Yes, the data is safe. The registry follows strict government guidelines to assure patient information is protected. The platform is served over HTTPS, which provides traffic encryptions so as to prevent eavesdropping and man-in-the-middle attacks. Communications between the registry platform application server and the database are also encrypted.

15. Who owns the data?

The identifiable and de-identifiable data are owned by the study sponsor, The APS Type 1 Foundation Inc., which decides how and with whom to share the data. A subset of the de-identified data collected across the NORD Registry Platform is available to NORD to support cross disease analysis and advocacy activities to members of the rare disease community as a whole.

16. 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.

17. 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.

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

NORD, a 501(c)(3) organization, is a patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them. NORD was founded by patients and families who marshaled grass-roots efforts to secure the passage of the Orphan Drug Act in 1983. Today, NORD represents the united voice of more than 250 rare disease-specific groups and thousands of patient advocates. Together, we are committed to the identification, treatment and cure of rare disorders through programs of advocacy, education, research and patient support services. Learn more about NORD at https://rarediseases.org/.

How Can I Join the APS Type 1 (APECED) Registry?

Register Here

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