Frequently Asked Questions
The Cavernous Malformation Registry is a research study to collect data about adults and children with cavernous malformations in the brain and spinal cord. The registry is hosted by the Alliance to Cure Cavernous Malformation, the largest cavernous malformation patient advocacy organization in the world and a trusted partner of the research community.
The Cavernous Malformation Registry has 5 main goals:
Identify individuals with cavernous malformations in the brain and spinal cord (CCM).
Gather past and future information on individuals with cavernous malformations through voluntary registration, self-reported survey questionnaires, patient-mediated medical record collection, and optional biospecimen sharing.
Make data collected through the Registry available to researchers and clinicians studying CCM to answer questions regarding the disease, including its causes, potential treatments, and other topics.
Be the primary hub of clinical trial recruitment for individuals with CCM.
Communicate current research findings to Registry participants.
There are many questions that may be answered through the Cavernous Malformation Registry. For example:
- Which symptoms are most common?
- What medications do our patients take?
- What other conditions do our patients have?
- How many participants can a pharmaceutical company expect to recruit for a trial?
- What is the natural history progression of CCM?
- What are potential new pathways for treatments and cures?
The Alliance to Cure Cavernous Malformation sponsors the Cavernous Malformation Registry. The Alliance to Cure Cavernous Malformation is a non-profit patient research foundation that aims to inform, support, and mobilize those affected by cavernous malformations and drive research for better treatments and a cure.
The Cavernous Malformation Registry is partially funded through generous gifts from Sara Sukalich and her husband, Matt Mingione, in memory of Sara's mother, Susan Sukalich.
We need your help to learn more about individuals with cavernous malformations (CCM) and provide researchers and pharmaceutical companies with the data to pursue a cure.
We believe you should register because:
- As a person living with CCM, you know your disease better than anyone. When you take surveys about your daily experiences and symptoms and share your medical records, you can help create a key resource for research. Every piece of data expands the information from which researchers can draw.
- Your voice matters in rare disease research! CCM is rare, so each participant can greatly expand the information available to researchers.
- It’s secure, and it's easy to participate. Registration is simple and completed entirely online. With your informed consent to participate in research, you can contribute health data through surveys and by uploading medical records. The Cavernous Malformation Registry is built to protect your identity and privacy.
- Your data can help bring us closer to a cure. Registry data may help research and clinical trial progress more quickly and efficiently. The data will be a powerful tool for clinical trials, treatments, and improved care.
- Participating will allow you to receive research updates and notifications about research participation opportunities.
Participation in the Cavernous Malformation Registry is completely voluntary. It is your choice to participate. You may also withdraw and stop participating for any reason and at any time by emailing firstname.lastname@example.org.
The following individuals are eligible to register in the Cavernous Malformation Registry:
- An individual with a cavernous malformation in the brain or spinal cord.
- An individual who has had a cavernous malformation removed.
- A parent or legal guardian of an individual with a cavernous malformation who has not attained the legal age of consent (under 18 years of age in most instances).
- A parent or legally authorized representative of an adult-aged affected individual who cannot understand their participation or legally provide consent.
- A parent or legal representative of an affected individual who is deceased.
In surveys, you may be asked to contribute contact information, diagnostics, family history, symptoms, disease progression, medical history, and current treatments. You may also be asked to link and/or upload medical records, such as genetic testing reports, clinical notes, imaging, and/or testing reports. Any information or records you supply are voluntary. You may ask to have your information removed at any time.
You will receive updates via email about every 3 months. Updates from the Cavernous Malformation Registry may include (1) requests to update your demographic, health, or genetic data; (2) requests or reminders about new surveys, to finish incomplete surveys, or to start a new survey; (3) information about how to link or upload your medical records and/or for specific medical record requests; (4) information about the biospecimen bank.
You may also receive periodic updates via email about the Cavernous Malformation Registry, news about research findings, general care guidelines or educational resources, information about meetings/conferences, opportunities to participate in clinical studies or trials, and notifications about future natural history studies.
We will send you an email every three months requesting that you visit the Cavernous Malformation Registry. This helps to ensure your contact and health information are current. You may also periodically receive emails requesting you to log in and answer additional survey questions. Your ongoing participation helps ensure that Registry data remains responsive to current research needs.
The more information you can contribute about your history with cavernous malformation, the better!
The Cavernous Malformation Registry will continue to evolve as research advances. Additional surveys may be added, and existing ones may change based on future needs. Some will be shorter because only a few answers are needed; others will be more comprehensive, as needed, for research.
The time to complete surveys will vary. We try to keep them as short and simple as possible. Each survey is expected to take between 5 to 20 minutes. Not all surveys need to be completed in one sitting, and progress can be saved.
What is the difference between a Patient and Caregiver account in the Cavernous Malformation Registry?
When you click on “Register” on our main page, you will be asked to select either a Patient or a Caregiver account.
- A patient account is for an affected individual 18 years or older diagnosed with CCM. Those individuals will be asked to read through an informed consent form and formally agree to participate in the patient registry.
- A caregiver account is reserved for a parent/legal guardian of a minor-aged affected child, a legally authorized representative of an adult-aged patient, or a parent/legal representative of an affected individual who is deceased. The caregiver can answer questions on behalf of their child or dependent.
- If you are both a patient and a caregiver, please read the next FAQ below.
I am a CCM patient, and my child is also affected with CCM. How can I manage their registry account and my own?
Our patient registry has the capability to link your own patient account with an affected child’s account. To do this, you will need to create your own account before creating one for your child.
- When you click on “Register” on our main page, select that you would like to create a Patient account for yourself and follow the prompts that are given.
- Once logged in to your own account, click on the “View or Add A Child Account” button located in the upper right corner.
- You will be asked to enter in your child’s name and date of birth, and to read through the same consent form to allow your child to participate in the registry.
- Once you have agreed for your child to participate, you will be directed back to your own account’s dashboard.
- To access your child’s recently created account, click on the “View or Add A Child Account button.”
- Navigate to your child’s name on the next screen and click, “Go.” You will now be in your child’s account dashboard. This will be indicated by their name appearing at the top of the page.
- To switch back to your own account, click on the “Return to Parent Account” button in the upper right corner.
- You can add as many children as needed to your linked accounts by repeating these steps.
I am not a CCM patient, but I am the parent/legal guardian of a minor aged patient (under 18 years of age). How do I sign them up to join the patient registry?
When you click on “Register” on our main page, select that you would like to create a caregiver account and follow the prompts that are given.
- Once your basic information has been recorded, you will be able to create an account for your child by clicking on “Create child account.”
- You will be asked to enter in your child’s name and date of birth, and to read through an informed consent form to allow your child to participate in the registry.
- To access your child’s recently created account, navigate to their on the next screen and click, “Go.” You will now be in your child’s account dashboard and can complete surveys.
I am not a CCM patient, but I am the legally authorized representative of an adult-aged patient. How do I sign them up to join the patient registry?
When you click on “Register” on our main page, select that you would like to create a caregiver account and follow the prompts that are given.
- Once a basic account has been created, you will then be able to create an account for your loved one by clicking on “create child account.”
- You will be asked to enter in your loved one’s name and date of birth, and to read through an informed consent form to allow your loved one to participate in the registry.
- To access your loved one’s recently created account, navigate to their on the next screen and click, “Go.” You will now be in their account dashboard and can complete surveys.
Why do I need to agree to an informed consent statement to participate in the Cavernous Malformation Registry?
The Cavernous Malformation Registry wants to ensure that you clearly understand how and why your health data is being requested. We also want you to be fully informed about the risks and benefits of participation. Documented informed consent will allow your data to be used in future research. The informed consent statement and other materials have been reviewed and approved by North Star Institutional Review Board.
- Cavernous Malformation Registry participation and questionnaires – Reviewing health-related events and completing surveys may cause emotional distress, embarrassment, or discomfort. These risks are anticipated to be minimal. You may decide not to complete a survey at any time.
- Confidentiality of data, including personal information – There is a risk of losing confidentiality. The security and privacy of your personal information is extremely important to us. Reasonable efforts will be made to protect you and your health information to the extent possible. The Alliance to Cure Cavernous Malformation and the company developing the Cavernous Malformation Registry website and computer systems will take reasonable technical precautions to keep your data secure. Absolute confidentiality cannot be guaranteed.
- Unforeseeable/unknown risks – There may be risks that are unknown at this time. You will be notified of any significant new findings that become known that may affect your willingness to continue in the study.
What are the potential benefits to registering and participating in the Cavernous Malformation Registry?
Benefits to registering may include:
- Receiving research updates and notifications about research participation opportunities.
- Free genetic testing if you have multiple lesions that can't be explained by a DVA or history of radiation.
- You can compare your survey responses to the registry's aggregated and unidentified survey responses.
- You can store and access your medical records in a secure database, retrievable by you at any time and from anywhere with an Internet connection.
There is no compensation for enrolling in the Cavernous Malformation Registry, nor is there compensation for donating biospecimens. There is no cost to you for participating.
You may receive (1) published research summaries, general care guidelines, and educational resources specific to cavernous malformation; (2) information about meetings/conferences specific to cavernous malformations; (3) notifications of clinical studies and trials; and (4) notifications about future natural history studies.
Your participation in the Cavernous Malformation Registry may include the following:
- Creating an account and providing your consent
- Completing research surveys
- Uploading or linking your electronic health records (optional)
Your participation is entirely optional, and you may withdraw at any time. Registry participants also have the opportunity to participate in the Alliance to Cure Cavernous Malformation biospecimen repository.
The Alliance to Cure Cavernous Malformation Biobank is a biological sample collection program housed at Texas Heart Institute. Biospecimens are very important for future experiments and research to help find a treatment and a cure for CCM. The Biobank allows you to donate blood, cavernous malformation tissue from prior or future surgeries, and other biological samples.
You are not automatically enrolled in the Biobank when you join the Registry. You will consent to join the Biobank separately if you choose to.
The Alliance to Cure Cavernous Malformation offers free genetic testing to patients in the United States and Canada with multiple cavernous malformations that can't be explained by a developmental venous anomaly or history of radiation. When you complete your Registry surveys, you will be asked if you would like more information about genetic testing. We will contact you within the next 6 weeks to share more information. The answers you provide to survey questions help us to determine whether you would be eligible. More information about the free genetic testing program can be found on the Alliance to Cure Cavernous Malformation website.
The Cavernous Malformation Registry may share your data with researchers, doctors, or scientific laboratories researching CCM. Interested parties are required to submit a written research proposal to the Alliance to Cure Cavernous Malformation. Before providing data to researchers, a Research Committee reviews the proposal to determine whether sharing data is in the best interest of the affected community.
Researchers from pharmaceutical companies and other commercial entities are invited to request de-identified, anonymous data from the Cavernous Malformation Registry. We hope our data helps research and clinical trial progress more quickly and efficiently. Interested parties are required to submit a written research proposal to the Alliance to Cure Cavernous Malformation. Before providing data to researchers, a Research Committee reviews the proposal to determine whether sharing data is in the best interest of the affected community.
Your healthcare providers can participate by helping to spread the word about the Cavernous Malformation Registry. Please ask your healthcare team to contact us at email@example.com to obtain recruitment information.
Your healthcare provider may also request data from the registry to assist in their IRB-approved research and contribute to our ongoing data collection efforts.
You will be able to compare your health history to the aggregated and de-identified survey responses from all Cavernous Malformation Registry members. You may also want to join our active community on Facebook or our weekly Zoom support groups. More information is available on the Alliance to Cure Cavernous Malformation website.
The investigators of the Cavernous Malformation Registry are available to answer your questions and assist you with completing your Registry account. If you have any questions regarding the consent process or the Registry’s IRB-approval, please email firstname.lastname@example.org.
The Cavernous Malformation Registry would appreciate your suggestions. A key component of the Registry is its community-centric focus, and we strongly encourage participants to provide feedback. Please email your comments, questions, or concerns to email@example.com.
Yes, absolutely! We are always happy to receive additional reports.
The Cavernous Malformation Registry is an effective, secure repository to store all of your medical reports in one place, allowing you to easily share those records with your healthcare providers any time and anywhere with an Internet connection.
In the United States, with limited exceptions, the HIPAA Privacy Rule (the Privacy Rule) provides individuals with a legal, enforceable right to see and receive copies upon request of the information in their medical and other health records maintained by their health care providers and health plans. For more information, see: https://www.hhs.gov/hipaa/for-professionals/privacy/guidance/access/index.html
There are 2 options to share your medical records. You can share your medical record in one or both ways. Sharing medical records is voluntary.
- Upload PDFs. You can upload PDFs (or scans) of any medical records, such as clinical notes, imaging, genetic results, and/or testing reports. Records are stored in a secure database and will be available anytime by logging into your Cavernous Malformation Registry profile.
- If you are in the United States, you may be able to link your electronic health records via application programming interfaces (APIs). You may be able to connect your online portal from your care provider or other repository of electronic health information to the Registry.
Types of information that will be examined in your medical records include but are not limited to patient identifiers, demographics, diagnoses, medications, procedures, outpatient and in-patient visits, laboratory results, vital signs, and doctor notes.
The Cavernous Malformation Registry will provide helpful instructions to upload and/or link your records. The Registry will host instructional teleconference meetings to help upload and/or link records
- Your medical records include a wealth of data relevant to researchers, scientists, and pharmaceutical companies interested in cavernous malformation. Medical records submitted to the Registry can help us understand CCM and enable researchers to pursue novel avenues toward a cure. Your name and personal information are removed from your medical records before the Registry shares any data with researchers.
- You can also use the Cavernous Malformation Registry to securely store records, retrievable by you at any time from anywhere with an Internet connection.
- Uploading or linking your medical records is voluntary and not required to register in the Cavernous Malformation Registry.
We take your privacy very seriously and have policies and processes to safeguard your identity and protect the health information you share with us. Your de-identified personal health information is only shared with your consent. Please review the informed consent document for more information.
The Cavernous Malformation Registry takes your privacy very seriously and has policies and processes to safeguard your identity and protect your health data. Any information shared with our research partners will be de-identified and handled per our informed consent.
Information you share will be stored in the Cavernous Malformation Registry for as long as the Registry exists and you authorize participation. If, for any reason, this registry is discontinued, you will be notified and you will have the opportunity to download information stored in your Registry profile.