About Undiagnosed Rare Disease Registry

The United States defines a rare disease as a condition affecting fewer than 200,000 individuals. The European Union defines a rare disease as a condition affecting 1 in every 2,000 individuals.
Despite advancements in the rare disease space over recent years, there are still an estimated 1 in 13 individuals affected by a rare, undiagnosed condition. On average, a rare disease takes 4.3 years to diagnose after an individual visits an estimated 7.3 physicians. Individuals seeking a rare disease diagnosis face a variety of known barriers including fractured medical records, limited available medical specialists, lack of available treatments, financial burden, and lack of disease specific information.

This study aims to limit the diagnostic odyssey of individuals with undiagnosed rare diseases through 1) building a community of individuals affected by undiagnosed rare diseases, 2) collecting relevant data regarding participant demographics, symptoms of concern, and quality of life and, 3) informing researchers, clinicians, and regulatory agencies.

The Undiagnosed Rare Disease Registry is an online registry for patients with undiagnosed rare diseases. It will be hosted and administered by the National Organization for Rare Disorders (NORD); an independent non-profit patient advocacy organization dedicated to individuals with rare diseases and the organizations who serve them and as such, is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services. The registry will collect information from participants, (or their authorized respondents, heretofore referred to collectively as “participants”), who are affected by undiagnosed rare diseases.

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 an Institutional Review Board (IRB)?

Any board, committee, or other group formally designated by an institution or investigator to review, approve the initiation of, and to conduct periodic review of research involving human subjects. The primary purpose of such review is to assure the protection of the rights and welfare of the human subjects. Also known as Ethics Committee (EC).

4. What is the purpose of the Undiagnosed Rare Disease Patient Registry?

One of the most important purposes of the Undiagnosed Rare Disease Registry is to bring the Undiagnosed Rare Disease community together and collect data which could be used to create therapeutics and improve the quality of life for patients. Some other goals of the Undiagnosed Rare Disease Registry are to:

• Conduct a prospectively-planned natural history study that will result in the most comprehensive understanding of Rare Diseases and their progression over time.
• Characterize and describe the Undiagnosed Rare Diseases population as a whole.
• Assist the Undiagnosed Rare Disease community with the development of recommendations for standards of care.
• Assist researchers studying the pathophysiology of Rare Diseases.
• Assist researchers studying interventional outcomes.
• Support the design of clinical trials for new treatments.

5. What types of data will be collected in the Patient 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

6. 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.

7. 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.

8. Who is a reporter/respondent?

A reporter/respondent is an individual who completes the surveys on behalf of the patient/study participant, when they are unable to do so on their own behalf.

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

An individual who is authorized under applicable law to consent, on behalf of a prospective subject, to the subject’s participation in the clinical trial. The LAR may be a parent, grandparent, caregiver, or guardian who has the legal authority to grant consent on behalf of another who is eligible to participate in research. When a LAR acts on behalf of a study participant, he/she is considered to be the reporter/respondent in the research.

10. What is an Informed Consent?

The Office for Human Research Protections (OHRP) states that, “… the informed consent process is the critical communication link between the prospective human subject and an investigator beginning with the initial approach of an investigator to the potential subject (e.g. through a flyer, brochure, or any advertisement regarding the research study) and continuing until the completion of the research study. […] The informed consent process involves three key features: (1) disclosing to potential research subjects’ information needed to make an informed decision; (2) facilitating the understanding of what has been disclosed; and (3) promoting the voluntariness of the decision about whether or not to participate in the research.”1

11. Who can join the study?

This study is open to anyone who has an undiagnosed rare condition.

12. Is there a cost to participate?

There is no cost to the patient to join this study. NORD absorbs the cost of the registry for its members.

13. 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.

14. How is the Patient Registry maintained?

The registry is maintained by NORD who hosts the registry on its cloud-based Platform and provides oversight and ongoing support of the system. NORD provides the day-to-day management of the Undiagnosed Rare Disease patient registry, including the development and adherence to the study procedures.

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