Frequently Asked Questions

HHT Connect

1. What is a Patient Registry?

A patient registry is a collection of information from patients who share a condition. It is used for many reasons mainly to develop therapies guide medical treatments and inform the patient and medical communities.


2. What is the purpose of HHT Connect, the Global HHT Patient Registry?

The purpose of HHT Connect is to collect information on all HHT patients in one place, to develop the registry into a powerful tool for research, and to bring together the HHT patient, scientific, and medical communities to better understand and treat HHT.

Some of the goals of HHT Connect are:

  • To describe the people who have HHT and how HHT signs and symptoms may be different for people;
  • To understand the stages of HHT and how it changes over a person’s lifetime;
  • To understand how HHT impacts the health and quality of life of people with HHT;
  • To use this information to learn how to best care for and treat people with HHT;
  • To identify people with HHT 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; and
  • To advance HHT research through coordination with other HHT studies (such as physician-entered databases and biorepositories) and other disease studies.

3. Who can participate in HHT Connect?

This registry study is open to anyone who has an HHT diagnosis and meets the study inclusion criteria for participation.

This includes:

  • Adults who enter information for themselves
  • Adults who can’t enter information by themselves and who have a Legally Authorized Representative who can enter data on their behalf
  • Children or minors who have a parent or guardian who can enter data on their behalf
  • Deceased persons who have a Designated Representative who can enter retrospective data on their behalf

A Participant Account can be created by an adult with HHT, and the adult will answer questions about themself.

A Caregiver Account can be created by (1) the parent/guardian of a child with HHT (2) a legally authorized caregiver of an adult with HHT or (3) a designated representative of a person with HHT who has passed away. The account holder will answer questions for the Participant (the child/adult with HHT).


4. Is there a cost to participate?

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


5. What types of information/data will be collected in HHT Connect?

The data collected includes but is not limited to:

  • Socio-demographics
  • Medical history and diagnosis
  • Treatment and disease progression
  • Management of care
  • Quality of life

6. How is the data collected?

Study participants respond online to questions grouped within a series of surveys developed per study standards and in collaboration with disease specific experts. 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 15).


7. 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.


8. 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.


9. 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.


10. Who owns the data?

The study data are owned by the study sponsor, Cure HHT. Cure HHT 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.


11. Who will have access to the health and other information in the registry?

The goal of the HHT Connect Registry is to help researchers, doctors, and industry partners learn about HHT while protecting your privacy. All data, including those with Protected Health Information (PHI), will be stored in a password-protected secure server. Access to PHI will be limited to:

  • Approved members of the HHT Connect 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 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.

Whenever possible, the data will be de-identified. De-identification means your name, all dates, and your address will be removed from the data, and only a unique identification code will be included. 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.


12. What is a Registry Study Sponsor?

A Registry 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 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 upholds regulations as they apply to the study. The sponsor of this registry is Cure HHT.


13. Who is Cure HHT?

Renamed Cure HHT in 2014, the HHT Foundation International was founded by a passionate group of patient families and physicians who shared a hope for a better future for those with HHT. Since its establishment in 1991, Cure HHT has consistently been at the center of the national and global effort to advocate for patients and families, raise awareness of HHT, guide and fund critical research, create lasting collaborations, and encourage scientists to work on new treatments. Cure HHT has the experience to drive progress across the patient, medical, and scientific communities. To learn more about Cure HHT, please visit: https://curehht.org/


14. How is the registry maintained?

The registry is maintained by NORD, who hosts the registry on its web-based application. NORD provides ongoing technical support of the system. Cure HHT provides the day-to-day management of the HHT Connect patient registry. The initial design and implementation of the registry has been made possible in part by a grant to NORD from the Chan Zuckerberg Initiative DAF, an advised fund of Silicon Valley Community Foundation. Following the grant period, the registry will be funded by Cure HHT.


15. 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/.


16. 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 or complete new surveys.


17. What is a Principal Investigator?

The Principal Investigator (PI) is the person with the primary responsibility for the design and conduct of the research project or study. The PI is responsible for oversight of all aspects pertaining to the conduct of the Registry, its staff, and the research on the data contained within.


18. 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/LAR, see below) who is legally responsible for their health care will provide consent and enter information about the Study Participant. In the case of an individual who has passed away, a Designated Representative (see below) is permitted to enter data on their behalf.


19. 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.


20. What is a Designated Representative?

A Designated Representative is a legal adult who was the caretaker of an individual with HHT who passed away. 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.


21. 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 an informed 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.


22. 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 researchers prior to withdrawal cannot be retrieved or removed.


23. 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).


24. 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.


25. 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.