ileak registry℠ and Frequently Asked Questions

The primary aim of the ileak registry℠ is to conduct a prospectively planned and efficient natural history study to improve understanding of spinal cerebrospinal fluid (CSF) leak and intracranial hypotension (also referred to as intracranial hypovolemia) and their progression over time. While protecting participant privacy, the registry is designed to help researchers, clinicians, and industry partners learn more about spinal CSF leak and advance knowledge that can improve diagnosis, treatment, and outcomes.

Other registry objectives include the following:

• To provide a convenient online platform for participants (or caregivers) to self-report cases of spinal CSF leak / intracranial hypotension
• To develop a contact registry within the ileak registry℠ (e.g., to notify participants of research studies and clinical trials).
• To characterize and describe the population affected by spinal CSF leak / intracranial hypotension as a whole, enhancing the understanding of disease prevalence, phenotype, the progression of signs and symptoms over time, treatment responses, and prognosis.
• To help the spinal CSF leak / intracranial hypotension community develop recommendations and clinicians understanding of best practice and standards of care.
• To be a case-finding resource for researchers either retrospectively studying the pathophysiology of spinal CSF leak / intracranial hypotension or intervention outcomes or designing prospective studies, including trials of novel treatments.

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. As a patient-centered research initiative, the ileak registry℠ enables real-world data generation driven by the spinal CSF leak community for the spinal CSF leak community to advance understanding, improve clinical care, and support future research and treatment efforts.

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.

Data is collected through IAMRARE®, a secure web-based platform developed and maintained by the National Organization for Rare Disorders, Inc. (NORD®), and accessible by computer, tablet, mobile device, or NORD’s new mobile application. IAMRARE® currently supports more than 70 patient-powered natural history studies representing over 140 rare conditions. Please see the rest of our FAQs for more information about NORD®.

Participants contribute data by answering questions to a series of structured surveys developed according to registry standards and in collaboration with patients, clinicians, and other condition- specific experts.

The data collected includes but is not limited to:

• Socio-demographics
• Diagnosis
• Medical history
• Treatment and care
• Disease progression and review of current symptoms
• Quality of life

A CRID (Clinical Research ID) is a unique, de-identified code used to securely link your information within and across studies without using personal identifiers. It helps ensure your data remains consistent over time, even if your name changes or if multiple participants have similar names.

The CRID also saves you time by allowing previously provided information to be reused in approved studies or surveys conducted through the registry platform. You won’t have to enter the same information twice.

Participation in the CRID system is optional but highly encouraged. You can learn more and create a CRID number at https://thecrid.org

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 the Spinal CSF Leak Foundation.

The Spinal CSF Leak Foundation is a US-based 501(c)(3) non-profit founded in 2014 by patients with spinal CSF leak / intracranial hypotension. Its mission is to reduce the suffering of those experiencing spinal CSF leak. The Spinal CSF Leak Foundation is 100% patient-led, by a board of spinal CSF leak patients.

You can learn more about the Spinal CSF Leak Foundation at https://spinalcsfleak.org/.

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.

The PI of this study is Jill Rau, MD, PhD, a Headache Neurologist who also serves on the Spinal CSF Leak Foundation’s Medical Advisory Board.

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 who is legally responsible for their health care will provide consent and enter information about the Study Participant.

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.

A Designated Representative is a legal adult who was the caretaker of an individual 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.

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.

Yes, participants may withdraw from the study at any time. To withdraw, log in to your account, select your name and the ileak registry℠, then click the “Consent/Opt-ins” button followed by “Revoke.” Participants may also withdraw by contacting the registry staff directly by email at registry@spinalcsfleak.org or by phone at (509) 676-4112.

Withdrawing your consent means that no new information will be collected or used by the registry after your withdrawal. However, data collected prior to withdrawal may still be used for research purposes, and information already shared with researchers cannot be retrieved or removed.

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).

The Registry Advisory Board is a multidisciplinary committee of scientists, clinicians, and patient advocates that oversees registry conduct, advises on survey development and data use, and reviews research requests and analyses to ensure alignment with the registry’s mission. The board evaluates all data requests for scientific merit and community value, determines which data are shared (limited to what is necessary for approved research), and ensures that any protocol or confidentiality deviations are properly reported to the Institutional Review Board (IRB).

This study is open to anyone who has a confirmed or suspected diagnosis of spinal CSF leak and meets the study inclusion criteria for participation.

No, the diagnosis does not need to be confirmed by a physician to participate in the study.

Yes, you can hit “save” on your data and return to your answers later before submitting your answers to the survey. Once a survey has been submitted, those answers cannot be modified, but they can be supplemented when you update your information approximately every six months.

Participants will be asked to return to the registry approximately every six months to update their information. An email reminder will be sent when it is time to complete the update surveys. Certain information, such as demographic details, will not need to be re-entered during these updates.

Initial participation in the registry is estimated to take approximately 1-3 hours to enter information and complete, depending on the Participant’s experience and/or time that it took to diagnose and treat their spinal CSF leak. Participants may pause at any time and later resume their progress using their secure login credentials.

As noted above, and in order to capture updates over time, participants will be asked to return to the registry approximately every six months to complete follow-up surveys. These follow-up entries typically require about 30 minutes – 1 hour to enter updated information.

If you’ve completed an updated survey following your initial survey response, you are welcome to go update the registry whenever your diagnosis, condition, or treatment changes. Alternatively, you can wait until you next receive an email prompt to update your information in the registry.

You do not need to have your medical records available before you start but it may make it easier to answer the survey.

The purpose of the study is to research the natural history of spinal CSF leak over a wide population, so the questions focus on broadly applicable issues in spinal CSF leak. Additional topics may be researched in follow-up, secondary studies that are based on initial survey results from the ileak registry℠.

Yes, if you agree to your contact details being shared with researchers, they may contact you to participate in secondary studies. You will receive more information about the purpose of those studies if you are contacted.

By contributing to the ileak registry℠, participants help advance research, support future studies, and improve understanding and care for those affected by spinal CSF leak. While individual updates on registry findings are not automatically provided, the Spinal CSF Leak Foundation will periodically share information about registry progress, research collaborations, and data- driven insights. To stay informed, participants are encouraged to sign up for the Spinal CSF Leak Foundation’s newsletter or follow its official social media channels. Participants also have access to their own data at any time through the participant dashboard and can view charts and graphs based on combined, de-identified registry data.

The Spinal CSF Foundation is here to help you. Please contact us at registry@spinalcsfleak.org

The Spinal CSF Leak Foundation created a background watercolor image that uses colors from our logo, as well as green accents from Spinal CSF Leak Foundation’s marketing materials and blue accents from the NORD logo. We chose a watercolor because CSF is predominantly made of water.

The wave-shaped accent purple element conveys the waves of CSF in the body and brain, and the ebbing and flowing of managing this debilitating neurological condition.

We welcome your interest in supporting the ileak registry℠. One of the most meaningful ways to help is by raising awareness and inviting others to join you in becoming registry participants. The value of the registry grows through collective data, and its impact is greatest when as many people as possible with the condition contribute to the research.

If you have a physician, doctor’s office, or treatment center that may be interested in sharing information about the registry with their patients, please have them contact us at registry@spinalcsfleak.org.

Here are a few sample posts you can share. Please note that to protect the anonymity of participants in the registry, it’s important that you do not tag people you think should participate by name. In addition, please do not change the messages below when sharing them on your social media or elsewhere, as the wording has been IRB-approved.

• Help make a difference in the spinal CSF leak community! Join me in signing up today for the ileak registry℠ at https://ileakregistry.org
• Did you know anyone diagnosed with a confirmed or suspected diagnosis of spinal CSF leak can enroll in the ileak registry℠ and provide their data! Every patient’s story and experiences are unique. Make a difference and contribute to the first international spinal CSF leak patient registry to help drive progress in the field. Join now and let your data tell your story!
• Join me in helping move research forward for spinal CSF leak! The ileak registry℠ is currently recruiting study participants. I am enrolling to help make a difference in the field.

If you have questions or would like to explore additional ways to get involved, please contact us at registry@spinalcsfleak.org

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

You will not be paid for the information you provide.

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.

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.

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.

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.

The registry follows strict U.S. 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.

The study data are owned by the study sponsor, the Spinal CSF Leak Foundation. The Spinal CSF Leak 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.

Protected Health Information (PHI) refers to any health or personal information that can be used to identify an individual. This includes details like names, contact information, or medical history, and it is protected under U.S. privacy laws such as the Health Insurance Portability and Accountability Act (HIPAA).

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 ileak 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.

NORD hosts the registry on its secure, web-based IAMRARE® platform and provides ongoing technical support for the system. As with other nonprofit and patient advocacy organizations using the IAMRARE® platform, the Spinal CSF Leak Foundation manages the day-to-day operations of its patient registry and markets the registry to their community.

NORD, an independent nonprofit, is leading the fight to improve the lives of rare disease patients and families. The organization does this by supporting the rare community, its people, and organizations. They 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/.