FAQs

CLOVES Syndrome Registry

Thank you for your interest in CLOVES Syndrome Registry. Please see below some frequently asked questions. If you have additional questions that are not listed, please contact us at registry@clovessyndrome.org!

1. What is the purpose of the CLOVES Syndrome Registry?

The primary aim of the CLOVES Syndrome Registry is to conduct a prospectively planned and efficient natural history study that will result in a more comprehensive understanding of the disease and its course and pace over time. Other registry objectives include the following:

Provide a convenient online platform for participants (or caregivers) to self-report cases of CLOVES Syndrome
Develop a communications registry within the CLOVES Syndrome Registry (e.g., to notify participants of research studies and clinical trials).
Characterize and describe the CLOVES Syndrome population as a whole, enhancing the understanding of disease prevalence and phenotype as well as the rate of progression of disease characteristics.
Assist the CLOVES Syndrome Registry with the development of recommendations and standards of care.
Be a case-finding resource to be used for researchers who seek to study the pathophysiology of CLOVES Syndrome, retrospectively collate intervention outcomes, and design prospective trials of novel treatments.

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. 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. It may also include those who are at risk of developing the condition/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 patient care best practice development and 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 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 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 CLOVES Syndrome Registry?

The data collected 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 upholds regulations as they apply to the study. The sponsor of this registry is CLOVES Syndrome Registry.

7. Who is CLOVES Syndrome Registry?

In 2009 the mother of a child with CLOVES syndrome started a website and an organization after she realized that no such resources existed for families and people with CLOVES.

The vision of CLOVES Syndrome Registry (CSC) is an improved quality of life for those living with CLOVES syndrome. Our mission is to support, educate, empower and improve the lives of those affected by CLOVES syndrome.

CSC does this by cultivating a thriving patient community, convening medical and family conferences, publishing books for children, funding medical research and assisting families with long term medical costs. We also bring families together for Betsy’s Camp, an annual opportunity for community, fun and relaxation. CLOVES Syndrome Registry is part of the Chan Zuckerberg Initiative’s Rare As One Network— a group of 30 patient-led organizations that are driving progress in the fight against rare diseases. We’re proud to be creating a patient-led research network to accelerate research and find treatment options for people with CLOVES and PIK3CA Related Conditions. CSC’s stakeholders are international and include: Individuals diagnosed with CLOVES syndrome and their families, friends, and caregivers; physicians and medical and allied health professionals; researchers; therapists; teachers; biotech and pharmaceutical companies. CLOVES Syndrome-related foundations and nonprofit organizations; and individuals with PIK3CA Related Conditions and their associated patient advocacy organizations.

8. What is a Principal Investigator?

The Principal Investigator 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.

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 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.

10. 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.

11. What is a Designated Representative?

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

12. 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.

13. 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 the RDCA-DAP or other researchers prior to withdrawal cannot be retrieved or removed.

14. 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).

15. 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.

16. Who can join the study?

Individuals of any age with a confirmed diagnosis of CLOVES Syndrome or diagnosis consistent with CLOVES Syndrome or PROS are eligible for inclusion.

17. Is there a cost to participate?

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

18. Is there a payment for participating?

There will be no reimbursements made to participants of the registry.

19. 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.

20. 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.

21. 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.

22. 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.

23. 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.

24. Who owns the data?

The study data are owned by the study sponsor, CLOVES Syndrome Registry. CLOVES Syndrome Registry 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.

25. 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 CLOVES Syndrome 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 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.

26. 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. CLOVES Syndrome Registry provides the day-to-day management of their patient registry.

27. 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/.