Fanconi Anemia Registry

Thank you for your interest in the Fanconi Anemia Registry. Please see below some frequently asked questions. If you have additional questions that are not listed, please contact us!

1. What is the purpose of the Fanconi Anemia Registry?

The purpose of the Fanconi Anemia Registry is to collect patient-provided information on Fanconi anemia to understand the natural history of the disease and support research to find better treatments and a cure.

Some of the goals of the Fanconi Anemia Registry are:

• To understand the different ways Fanconi anemia affects people diagnosed with the disease. To do this, we will ask about medical history, quality of life, and cancer screening, diagnoses, and treatment.
• To understand how Fanconi anemia changes over a person’s lifetime and to learn about clinical practice patterns and variations over the course of treatment.
• To help to develop best practices, management guidelines and recommendations so that clinicians can provide the best care to improve the quality of life and outcomes of people with Fanconi anemia.
• To identify people with Fanconi anemia 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.

2. What is a Patient Registry?

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

3. 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/Legally Authorized/Designated Representative (see questions 4 and 5) who is legally responsible for their health care will provide consent and enter information about the Study Participant.

4. 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.

5. What is a Designated Representative?

A Designated Representative is a legal adult who was the caretaker of an individual who passed away from Fanconi anemia. 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.

6. 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.

7. Who can join the study?

This study is open to anyone who has a Fanconi anemia diagnosis and meets the study inclusion criteria for participation.

8. Is there a cost to participate?

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

9. What types of data will be collected in the Fanconi Anemia Registry?

The data collected includes but is not limited to:

• Socio-demographic
• Medical history and diagnostics
• Cancer screening, diagnoses, and treatment
• Quality of life

10. 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 17). Study participants respond to questions grouped within a series of surveys developed per study standards and in collaboration with disease specific experts.

11. Is the data protected?

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.

12. Who owns the data?

The study data are owned by the study sponsor, the Fanconi Cancer Foundation. The Fanconi Cancer 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.

13. 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 Fanconi Anemia 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 Fanconi Anemia 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. 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.

14. Can data be collected worldwide?

The registry uses an online platform which allows participants to contribute data from anywhere in the world. 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.

15. What are the General Data Protection Regulation (GDPR) considerations?

The GDPR is a law that sets guidelines for the collection and processing of personal information from individuals residing in the European Union. It provides consumers with more control over how their personal data is handled and disseminated by companies. 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. 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.

16. Who is the Fanconi Cancer Foundation?

The Fanconi Cancer Foundation (FCF) is the world leader in advancing research for Fanconi anemia (FA). Our mission is to improve the lives of people affected by Fanconi anemia and associated cancers worldwide by funding exceptional research and empowering our community.

Learn more about FCF at http://www.fanconi.org.

17. 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/.