How to be involved in CCM Research and Angioma Alliance

1. Join the Patient Registry

Join the Patient Registry to learn more about current studies and recieve notification about those for which your may be eligible!  LEARN MORE

2. Donate Tissue with the DNA/Tissue Bank

Why is a DNA/Tissue Bank Needed?

No one knows why some cavernous angiomas hemorrhage and others do not. No one knows how to stop cavernous angiomas from hemorrhaging in the first place. Researchers are using DNA extracted from blood samples, surgically removed cavernous angioma tissue, and medical and family histories to help answer these questions. They are trying to determine if there are differences between cavernous angiomas, or between the people who have them, that can explain cavernous angioma behavior. By collecting these raw materials and distributing them to the research community, our DNA/Tissue Bank and patient registry will advance and shorten the search for a non-invasive treatment for cerebral cavernous angiomas, perhaps by years.

Now Recruiting

We are recruiting individuals who live in North America with a history of cavernous angiomas to participate in the DNA/Tissue Bank and Patient Registry. Your children with cavernous angiomas are encouraged to participate 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 or your child has been diagnosed with one or more cerebral cavernous angiomas and your diagnosis has been confirmed by MRI, by genetic testing, or by pathology findings after a surgery.
  • You or your affected child have had surgery to remove a cavernous angioma 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 angioma tissue if a surgery is scheduled in the future.
  • You are willing to remain in contact with Angioma Alliance for a minimum of 5 years.
  • We are particularly seeking those who had a surgery at St. Joseph's Hospital in Phoenix, AZ since 2005 or who have a surgery planned at that facility.

If You Participate

Angioma Alliance DNA/Tissue Bank personnel will contact you to discuss the BioBank 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 and MRIs and for pathology slides if you or your child have had a past surgery. We will conduct an extensive interview or ask you to complete an online questionnaire about your family history, activities, and other aspects of your life.

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 a surgery is scheduled, the Angioma Alliance DNA/Tissue Bank will work with you, the surgeon, and the hospital to coordinate cavernous angioma tissue donation. You will need to let your surgeon know that you would like to donate your or your child's cavernous angioma to the DNA/Tissue Bank.

The Angioma Alliance DNA/Tissue Bank will follow up with you on a yearly basis to update your medical information.

Genetic Testing

If you or your child has not already had genetic testing, we will test your DNA sample for a possible CCM1, CCM2, or CCM3 mutation or CCM2 exon 2-10 deletion. If additional causative genes are identified for the illness, we will also test for mutations on these. Because the testing is done for research rather than diagnostic purposes, we can not inform you of the specific results of the testing, but we will let you know if a mutation or deletion is found. This will enable you to obtain follow-up confirmatory clinical diagnostic testing from a diagnostic laboratory. This could also mean a substantial cost savings to the you if your insurance does not cover genetic testing or if you are uninsured.

Privacy and Safeguards

Names are removed from any samples or information that goes to researchers; only Angioma Alliance 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 Angioma Alliance DNA/Tissue Bank Scientific Advisory Committee. You can revoke your consent at any time and your samples and data will be recalled and destroyed.

Enroll Online

To Begin the Enrollment Process please complete the form below:

This page was updated on 12.11.12