Text Size: SMALL  LARGE

DNA/Tissue Bank and Patient Registry:  Information for Health Professionals 

Angioma Alliance has established a DNA/Tissue Bank and matching clinical database for cerebral cavernous malformations (CCM, cavernous angioma, cavernoma).  Our goal is to create the world’s largest collection of CCM genetic samples with matching clinical data to be used as a resource to drive research.

Criteria and Process 

We are recruiting individuals with a history of cerebral cavernous malformations to participate in the study.

Criteria for participation are listed below:

 
  • Current or past clinical diagnosis of cerebral cavernous malformations confirmed by MRI or pathology findings
  
  • Willingness to donate a blood sample; sign releases requesting pathology slides, medical records and imaging; and participate in completing a questionnaire or interview
 
  • Willingness to assists in coordination of tissue donation in the event of cavernous malformation resection
 
  • Willingness to remain in contact with Angioma Alliance for a minimum of 5 years
 
  • We are currently limiting participation to those who have a planned CCM surgery and those with a past history of surgery or to those with multiple cavernous malformations.

Qualified participants donate a blood sample and complete a comprehensive questionnaire or interview.  Blood donation kits will be sent in the mail for participants to take to their doctor, clinic or blood draw center to have their 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 the participant, the surgeon, and the hospital to coordinate tissue donation.  If surgery scheduling allows, dry ice will be shipped to the hospital facility along with a tissue collection kit for use and return to the private lab.  The Angioma Alliance DNA/Tissue Bank will attempt to acquire Institutional Review Board approvals at facilities where this is required. 

The Angioma Alliance BioBank will follow up with participants on a yearly basis to update their clinical information.

If the participant has not already had documented genetic testing, we will test their DNA sample for 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.  Participants will not be informed of the results of testing, but if a mutation or deletion is found, they will be informed that results can be released to a diagnostic laboratory in order to obtain follow-up confirmatory clinical diagnostic testing.  This could mean a substantial cost savings to the patient whose insurance does not cover genetic testing or who is uninsured.

Privacy and Patient Safeguards 

This study was approved by Quorum Review on 5/22/2008 and conforms to HIPAA standards for protecting patient privacy.  Samples and de-identified information will be available only to researchers whose projects have been approved by the Angioma Alliance DNA/Tissue Bank Scientific Advisory Committee.  Participants may revoke their consent at any time and their samples and data will be recalled and destroyed.

 Ways to Get Involved 

The Angioma Alliance DNA/Tissue Bank and Patient Registry will grow only with the support of the CCM community and medical professionals like you.  We need your involvement:

 
  • Distribute DNA/Tissue Bank materials to your patients who may be interested in the DNA/Tissue Bank or direct them to Angioma Alliance
 
  • Work with your institution to facilitate the donation of fresh frozen tissue to the DNA/Tissue Bank.
 
  • Consider using DNA/Tissue Bank samples or data in your research and share information about the DNA/Tissue Bank with other CCM researchers.

We appreciate your support of Angioma Alliance and our vision of a non-invasive treatment for CCM and, ultimately, a cure.  Questions about the DNA/Tissue Bank and Patient Registry can be directed to Amy Akers at Amy.Akers@angioma.org or 757-818-0403.

About Angioma Alliance

Established in 2002, Angioma Alliance is a patient-driven, non-profit patient advocacy organization.  Our mission is to inform and support individuals affected by cerebral cavernous malformations while facilitating improved diagnosis and management of the illness through education and research.