Angioma Alliance has established a DNA/Tissue Bank and matching clinical database for cerebral cavernous malformations (CCM, cavernous angioma, cavernoma). Our biorepository is governed by an external IRB to ensure proper protections for our patient-participants. It is our goal to provide a shared resource to drive research for a better understanding and development of a cure for cavernous angioma.
Angioma Alliance’s biorepository collects surgical lesions specimens (flash-frozen and/or FFPE), blood and/or saliva samples for genomic DNA processing, as well as clinical and imaging records. These materials are available to approved research studies, as determined by the biorepository scientific committee.
To qualify to access biorepository samples and data, researchers must:
- Contact Amy Akers at firstname.lastname@example.org to request and complete an Application and Material Transfer Agreement.
- Provide scientific rationale and experimental design for the requested samples.
- Provide documentation of research funding at an accredited institution.
Criteria for Study Participants
We are recruiting individuals with a history of cavernous angioma (cerebral cavernous malformations, cavernoma) to participate in the study. Criteria for participation are listed below:
- Current or past clinical diagnosis of cavernous angioma (cerebral cavernous malformations) confirmed by MRI or pathology findings
- Willingness to donate a blood sample and/or saliva sample; and to sign releases requesting pathology samples, medical records, and imaging; and participate in completing a questionnaire or interview
- Willingness to assists in the 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 or saliva sample for DNA extraction and processing, medical and imaging records, and a surgical specimen of the lesion tissue. 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. This testing is performed on a research basis and not appropriate for clinical diagnostic use. However, study participants may also qualify for Angioma Alliance Free Genetic Testing Initiative which would allow for confirmatory testing.
Privacy and Patient Safeguards
This study was approved on 5/22/2008, and is updated and approved annually by Advarra IRB, 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.
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.
About Angioma Alliance
Established in 2002, Angioma Alliance is a patient-driven, non-profit patient advocacy organization. Our mission is to inform, support, and mobilize those affected by cerebral cavernous angioma (cavernous malformation, cavernoma) and drive research for better treatments and a cure.