Why is a DNA/Tissue Bank Needed?
No one knows why some cavernous malformations hemorrhage and others do not. No one knows how to stop cavernous malformations from hemorrhaging in the first place. Researchers are using DNA extracted from blood samples, surgically removed cavernous malformation tissue, and medical and family histories to help answer these questions. They are trying to determine if there are differences between cavernous malformations, or between the people who have them, that can explain cavernous malformation behavior.
By collecting these materials and distributing them to the research community, the Alliance to Cure Cavernous Malformation DNA/Tissue Bank will advance and shorten the search for a non-invasive treatment for cerebral cavernous malformations, perhaps by years.
About the Alliance to Cure Cavernous Malformation DNA/Tissue Bank
Our DNA/Tissue bank was created in 2006. It is housed under contract at PreventionGenetics in Marshfield WI, and our work with patients is overseen by Advarra, an independent ethical review board. We supply tissue to researchers around the world, and it is often the case that tissue from a single surgery can be divided and used by multiple labs, allowing us to make the best use of this precious resource. We screen research projects requesting tissue to make sure their requests are appropriate and will advance the field.
We are recruiting individuals who live in North America with a history of familial cavernous malformations to participate in the DNA/Tissue Bank and Patient Registry. You and your children with cavernous malformations are encouraged to enroll if you are willing to request records and participate in the interviews.
We need your help if:
- You live in the United States or Canada
- You have one of the hereditary forms of the illnesses: CCM1, CCM2, or CCM3. We are especially in need of tissue from individuals with a CCM3 mutation.
- You or your child’s diagnosis of cavernous malformation has been confirmed by MRI, by genetic testing, or by pathology findings after surgery.
- You or your affected child have had surgery to remove a cavernous malformation from your brain, spine, or skin or you have an upcoming surgery.
- You or your affected child is willing to donate a blood and cheek cell sample.
- You are willing to sign releases requesting pathology slides, medical records, and imaging, and participate in completing a questionnaire or interview.
- You are willing to donate your or your child’s cavernous malformation tissue if surgery is scheduled in the future.
If You Participate
Alliance to Cure Cavernous Malformation DNA/Tissue Bank personnel will contact you to discuss the tissue bank and answer your questions. You will be asked to sign a consent form for your or your child’s participation as well as several release forms for medical records, MRIs, and tissue (usually pathology slides) if you or your child have had a past surgery.
A blood donation kit will be sent in the mail for you to take to your doctor, clinic, or blood draw center to have your or your child’s blood drawn. The kit is then mailed to a private lab where the sample is processed.
If surgery is scheduled, the Alliance to Cure Cavernous Malformation DNA/Tissue Bank will work with you, the surgeon, and the hospital to coordinate cavernous malformation tissue donation. You will need to let your surgeon know that you would like to donate your or your child’s cavernous malformation to the Alliance to Cure Cavernous Malformation DNA/Tissue Bank.
If you or your child has not already had genetic testing, we may test your DNA sample for a possible CCM1, CCM2, or CCM3 mutation or CCM2 exon 2-10 deletion, or your may qualify for clinical diagnostic testing through our free genetic testing program or through your doctor if you prefer.
Privacy and Safeguards
Names are removed from any samples or information that goes to researchers; only Alliance to Cure Cavernous Malformation DNA/Tissue Bank staff will have access to your identifying information. Your anonymous samples will be available only to researchers whose projects have been approved by the Alliance to Cure Cavernous Malformation DNA/Tissue Bank Scientific Advisory Committee. You can revoke your consent at any time and your samples and data will be recalled and destroyed.
To begin the enrollment process, please complete the form below: