Frequently Asked Questions
Wolfram Syndrome Global Patient Registry
Frequently Asked Questions
Thank you for your interest in Wolfram Syndrome Global Patient Registry. Please see below some frequently asked questions. If you have additional questions that are not listed, please contact us at pat@thesnowfoundation.org
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. It includes people who have a specific medical condition or disease and those who are at risk of developing the condition/disease. 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 a Research Study Sponsor?
An individual, company, institution, or organization that takes responsibility for choosing appropriately trained and experienced researchers as well as the initiation, management, and/or financing of a clinical trial. The study sponsor ensures that the study is conducted in a reputable manner and upholds regulations as they apply to the study. The sponsor of this registry is the Snow Foundation for Wolfram Syndrome Research.
4. Who is The Snow Foundation for Wolfram Syndrome Research?
The Snow Foundation is a collective voice for Wolfram syndrome patients, working towards a cure for Wolfram syndrome and the development of novel therapies for diabetes, vision loss, hearing loss, and neurodegeneration. Our goal is to improve patient care, strengthen our voice, and support efficient and effective drug development for the treatment of Wolfram syndrome. The Snow Foundation’s goal is to create a world without Wolfram syndrome.
5. Who is NORD® – the National Organization for Rare Disorders, Inc.?
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 support, and drive public policy that benefits the estimated 25-30 million Americans impacted by rare diseases.
Learn more about NORD at https://rarediseases.org/.
6. 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. 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.
7. 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. This is also known as Ethics Committee (EC).
8. What is the purpose of the Wolfram Syndrome Global Patient Registry?
One of the most important purposes of the Wolfram Syndrome Global Registry is to bring the Wolfram syndrome 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 Wolfram Syndrome Global Registry are to:
- Conduct a prospectively-planned natural history study that will result in the most comprehensive understanding of Wolfram syndrome and its progression over time.
- Characterize and describe the Wolfram syndrome population as a whole.
- Assist the Wolfram syndrome community with the development of recommendations for standards of care.
- Assist researchers studying the pathophysiology of Wolfram syndrome.
- Assist researchers studying interventional outcomes.
- Support the design of clinical trials for new treatments.
- Notify participants of Wolfram syndrome clinical trials when the opportunity arises, therefore connecting researchers/ pharmaceutical companies with an eligible and interested WS patient population.
9. What types of data will be collected in the Wolfram Syndrome Global 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
10. 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 5). Study participants respond to questions grouped within a series of surveys developed per study standards and in collaboration with disease specific experts.
11. 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.
12. What is a Legally Authorized Representative (LAR)?
An LAR is 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, spouse, caregiver, or guardian who has the legal authority to grant consent on behalf of another who is eligible to participate in research. 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.
13. What is a Designated Representative?
A Designated Representative is a legal adult who was the caretaker of an individual who passed away from Wolfram 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.
14. 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.
15. Who can join the study?
This study is open to individuals of any age with a confirmed diagnosis of Wolfram syndrome type 1 or type 2 diagnosis or Wolfram related disorder.
16. Is there a cost to participate?
There is no cost to the patient to join this study. The Snow Foundation for Wolfram Syndrome Research absorbs the cost of the registry for its members.
17. 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.
18. 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 U.S. from other countries. This U.S. based registry will protect data and privacy according to U.S. requirements.
19. 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.
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.
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 risk that your privacy could be compromised. However, this registry and these security measures are designed to minimize the chance of this occurring.
22. Who will see my data? How is my privacy maintained?
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 Snow Foundation for Wolfram Syndrome 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.
23. Who owns the data?
The identifiable and de-identifiable data are owned by the study sponsor, The Snow Foundation for Wolfram Syndrome Research. The Snow Foundation for Wolfram Syndrome Research 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.
24. What is a Registry Advisory Board?
A Registry Advisory Board committee, that may include scientists, doctors, and patient advocates, will be assembled to oversee the conduct of the study. The Advisory Board will review aggregate registry data and the use of this registry, ensure proper evaluation of protocols requesting to use registry data and/or contact registry participants, and will review any protocol or confidentiality deviations on a case by case basis and ensure that any such deviations are reported to the IRB.
25. How is the Patient 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. The Snow Foundation for Wolfram Syndrome Research provides the day-to-day management of their patient registry, including the development and adherence to the study procedures.