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.
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.
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.” The Study Sponsor ensures that the study is conducted in a reputable manner and upholds regulations as they apply to the study.
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.
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.” 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.
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.
The data collected is uniform and includes but is not limited to:
- Medical and diagnostics
- Treatment and disease progression
- Management of care
- Quality of life
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.
A study participant is an 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.
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.
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.
The patient registry uses an online platform that 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.
The data is stored on NORD’s registry platform system, which adheres to industry standards regarding security protections.
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.
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.
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.
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 this website.
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. They 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 rarediseases.org.