Frequently Asked Questions
The CADASIL Community Natural History Study
Frequently Asked Questions
Thank you for your interest in the CADASIL Community Natural History Study. Below are some frequently asked questions. If you have additional questions that are not listed, please contact us at https://curecadasil.org/contact-us-2/ or email info@curecadasil.org.
What is the purpose of the CADASIL Community Natural History Study?
The primary aim of the CADASIL Community Natural History Study is to conduct a prospectively planned and efficient natural history study that will lead to a better understanding of the disease and its course and pace over time. Specifically, our specific aims are to:
- Create a partnership between patients, families and investigators that will encourage communications and education about CADASIL research;
- Characterize and describe the population affected by CADASIL and thereby better understand the disease burden and rate of progression of signs and symptoms over time;
- Identify participants who might be qualified to take part in research studies and clinical trials aimed at finding effective treatments for CADASIL;
- Pave the way for therapeutic trials by helping researchers identify potential targets for treatment and design trials that are more likely to succeed.
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.
Learn more about patient registries in this short video: What is a registry?
Why should I participate in a new registry? Didn’t we already have a CADASIL Family Registry with Invitae?
While the Invitae registry was a valuable initial effort, it was not designed to collect the in-depth, longitudinal data needed for a comprehensive natural history study. Unfortunately, it yielded very little follow-up data essential for understanding how CADASIL progresses over time.
This new NORD registry is different. It is specifically designed to gather the kind of data that is crucial for designing and conducting successful therapeutic trials. This information will help drive forward CADASIL research, laying the groundwork for future clinical trials and potential treatments.
How does this patient registry contribute to therapeutic drug development?
The cureCADASIL Community Natural History Study contributes to therapeutic drug development in two ways:
- It collects data from a large population of people affected by CADASIL, which researchers can then use to better understand CADASIL and its effects on patients.
- It provides researchers with access to participants for potential future clinical trials in which drugs will be tested for treatments.
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.
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 below). Study participants respond to questions grouped within a series of surveys developed per study standards and in collaboration with disease specific experts.
What types of data will be collected in the CADASIL Community Natural History Study?
The data collected includes but is not limited to:
- Socio-demographics
- Medical and diagnostics
- Treatment and disease progression
- Management of care
- Quality of life
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 cureCADASIL.
Who is cureCADASIL?
The CADASIL Association, also known as “cureCADASIL”, is a not-for-profit, patient-led, organization committed to advancing CADASIL research through uniting patients, researchers, and clinicians to find a cure for CADASIL.
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.
Who is a Study Participant?
A Study Participant is the individual about whom information is entered into the registry. Only individuals of legal age who are able and willing to consent for themselves can participate in the study. However, if during the course of the study a participant becomes unable to continue, a Legally Authorized Representative (LAR) may provide consent and enter information about the Study Participant.
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 a study participant who initially consented but later becomes incapacitated and unable to continue to provide follow-up information for themself. The LAR may be a parent, 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.
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.
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.
What is an Institutional Review Board (IRB)?
An IRB is a board made up of experts that review the risk vs the benefit of research studies that involve people. The IRB is formally designated by an institution or investigator. The IRB reviews the study protocol carefully to ensure that the rights and welfare of the study participants are carefully considered. This is also known as an Ethics Committee (EC) or Research Ethics Board (REB in Canada).
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.
Who can join the study?
This study is open to anyone who has a CADASIL diagnosis and meets the study inclusion criteria for participation. In addition, close relatives who might be at risk for CADASIL, but do not have CADASIL, are encouraged to participate. Caregivers of those living with CADASIL can join the study on behalf of a participant who has previously enrolled in the study, in the event that the participant loses the capacity to consent for themselves. (See also ‘Who is a Study Participant’).
Is there a cost to participate?
There is no cost to the patient to join this study.
Is there a payment for participating?
You will not be paid for the information you provide.
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.
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.
I am already participating in a CADASIL study. Can my data from this study be collected for use in the CADASIL Community Natural History Study?
Not at this time. In the future, cureCADASIL intends to create a repository to store and link data from other studies to consenting enrollees of the CADASIL Community Natural History Study. Our goal is to provide a means to link different sources of data about the natural history of CADASIL to facilitate research and the development of clinical trials of potential therapies. Details about the process of collecting and using these data, and any consent that we may require from participants will be provided at a later date.
What are the General Data Protection Regulation (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.
All Registry participants, including those 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.
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.
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.
Who owns the data?
The study data are owned by the study sponsor, cureCADASIL. CureCADASIL 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.
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 CADASIL Community Natural History Study 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.
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. CureCADASIL provides the day-to-day management of their patient registry.
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/.