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Frequently Asked Questions

PNH Patient Registry

FAQ for the Global Paroxysmal Nocturnal Hemoglobinuria (PNH) Patient Registry Natural History Study

1. WHAT IS THE PURPOSE OF THE GLOBAL PNH PATIENT REGISTRY?

The purpose of the Global PNH Patient Registry is to bring the PNH community together and collect data about the patient experience. Some other goals of the Global PNH Patient Registry are:

  • To describe people who have PNH and to better understand the stages of the disease and the different ways the disease affects people. To do this, we will ask about diagnosis, treatment, medical history, quality of life issues, and treatment outcomes.
  • To understand how PNH changes over a person’s lifetime and to learn about clinical practice patterns and variations over the course of treatment.
  • To help develop best practices, management guidelines and recommendations so that clinicians can know how to give the best care to improve the quality of life and outcomes of people with PNH.
  • To identify people with PNH who might be willing to take part in other PNH-related 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 is used for a variety of purposes such as conducting natural history studies and supporting disease specific clinical trial recruitment.

3. 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. 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 developing patient care best practices or clinical trial recruitment. Data for natural history studies are often collected via patient registries.

4. HOW IS THE DATA COLLECTED?

Data is collected through a secure web-based system (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 24). Study participants respond to questions grouped within a series of surveys developed per study standards and in collaboration with disease specific experts.

5. WHAT TYPES OF DATA WILL BE COLLECTED IN THE GLOBAL PNH 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. 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 uphold regulations as they apply to the study. The sponsor of this registry is the Aplastic Anemia and MDS International Foundation.

7. WHO IS THE APLASTIC ANEMIA AND MDS INTERNATIONAL FOUNDATION (AAMDSIF)?

AAMDSIF is the world’s leading nonprofit health organization dedicated to supporting patients and families living with aplastic anemia, myelodysplastic syndromes (MDS), paroxysmal nocturnal hemoglobinuria (PNH), and related bone marrow failure diseases. The Foundation provides answers, support, and hope to thousands of patients and their families around the world.

AAMDSIF is a patient-focused, patient-centered organization, serving patients and families throughout the three phases of bone marrow failure diseases; their life-changing phase of diagnosis, their life-threatening phase of treatment, and their life-long phase of living with a chronic disease. Learn more about AAMDSIF at https://www.aamds.org.

8. 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.

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 themselves. 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)?

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 a LAR acts on behalf of a study participant, they are considered to be the reporter in the research.

11. 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.

12. 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 other researchers prior to withdrawal cannot be retrieved or removed.

13. WHAT IS AN INSTITUTIONAL REVIEW BOARD (IRB)?

An 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).

14. WHAT IS A REGISTRY ADVISORY BOARD?

A Registry Advisory Board 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 this 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.

15. WHO CAN JOIN THE STUDY?

This study is open to anyone who has ever been diagnosed with PNH.

16. IS THERE A COST TO PARTICIPATE?

There is no cost for patients to join this study. AAMDSIF absorbs the cost of the registry for its community.

17. IS THERE PAYMENT FOR PARTICIPATING?

You will not be paid for the information you provide. However, AAMDSIF wants to thank all participants in the Global PNH Patient Registry for their time and the effort they put into completing the Registry surveys. For this reason, AAMDSIF is offering all eligible participants who complete the baseline surveys the option to receive one digital gift card totaling $75 USD. For more information, please refer to the Thank You Gift Card FAQ.

18. 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.

19. CAN DATA BE COLLECTED WORLDWIDE?

The patient 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 United States from other countries. This U.S. based registry will protect data and privacy according to U.S. requirements.

20. WHERE IS THE DATA STORED?

NORD stores Sponsor and Participant Registry Data on NORD encrypted servers and/or encrypted servers of third-party vendors hosted in Canada. Regular back-up at commercially acceptable intervals is provided. These servers meet industry standards and are compliant with US and international regulations, including GDPR. See question #24 below for more information regarding GDPR.

21. 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.

22. WHO OWNS THE DATA?

The study data are owned by AAMDSIF, the study sponsor. AAMDSIF 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.

23. 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 Global PNH Patient Registry research team
  • NORD staff, in cases where technical support is needed and with the permission of registry staff
  • With agreement from AAMDSIF, NORD may conduct IRB-approved, cross-disease research using registry data.
  • Other researchers approved by the Registry Medical Advisory Committee

In all cases, your privacy will be protected. The Registry Medical 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.

24. 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.

25. HOW IS THE REGISTRY MAINTAINED?

The registry is maintained by NORD who hosts the registry on its web-based application. NORD provides oversight and ongoing support of the system. AAMDSIF and NORD provide the day-to-day management of their patient registry.

26. 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 affected by a rare disease. Learn more about NORD at https://rarediseases.org.

* The Global PNH Patient Registry is a collaborative effort between AAMDSIF and NORD, with support from industry partners, Apellis Pharmaceuticals, Inc., Novartis, and Genentech, Inc.