Alliance to Cure Cavernous Malformation has established a DNA/Tissue Bank and matching clinical database for cerebral cavernous malformations (CCM, cavernous malformation, cavernoma). Our biorepository is governed by an external IRB to ensure proper protection for our patient-participants. This repository was developed to provide a shared resource to drive research for a better understanding and development of a cure for cavernous malformation.
Biological samples are not available for distribution at this time. The Biobank is moving to a new facility and will begin collecting samples in Fall, 2022.
The clinical database is available to approved research studies, as determined by the biorepository scientific committee. The medical information is in the format of a Microsoft Access database. Deidentified clinical records may also be available upon request.
To qualify to access biorepository samples and data, researchers must:
- Contact Amy Akers at firstname.lastname@example.org to request and complete a Data Use Agreement.
- Provide a scientific rationale for the use of requested data.
- Provide documentation of research funding at an accredited institution.
We recruited individuals with a history of cavernous malformation (cerebral cavernous malformations, cavernoma), including both familial and sporadic forms of the illness. With a focus on collecting surgical specimens, participation was limited to those who have a planned CCM surgery and those with a past history of surgery. Therefore, the associated clinical database is not representative of the collective patient population, rather it is skewed with an overrepresentation of severe CCM cases.
Study enrollment and data collection are closed at this time.
Collection Procedures & Genetic Testing
Qualified participants provided a blood or saliva sample for DNA extraction, medical and imaging records, and a surgical specimen of the lesion tissue. Blood or saliva collection kits were sent in the mail for participants to take to their doctor, clinic, or blood draw center. The kit was then mailed to a private lab where the sample was processed.
If the participant had not already had documented genetic testing, we tested their DNA sample for possible CCM1, CCM2, or CCM3 mutation or CCM2 exon 2-10 deletion. Participants were not informed of the results of the testing. However, if a mutation or deletion was found, the participant would be informed that results could be released to a diagnostic laboratory in order to obtain follow-up confirmatory clinical diagnostic testing. This process offered a substantial cost saving to the patients whose insurance did not cover genetic testing or who were uninsured.
Privacy and Patient Safeguards
This study was approved on 5/22/2008, is updated and approved annually by Advarra IRB, and conforms to HIPAA standards for protecting patient privacy. Samples and de-identified information are only available to researchers whose projects have been approved by the Alliance to Cure Cavernous Malformation 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 Alliance to Cure Cavernous Malformation and our vision of a non-invasive treatment for CCM and, ultimately, a cure. Questions about the DNA/Tissue Bank can be directed to Amy Akers at Amy.Akers@alliancetocure.org.
About Alliance to Cure Cavernous Malformation
Established in 2002, Alliance to Cure Cavernous Malformation is a patient-driven, non-profit patient advocacy organization. Our mission is to inform, support, and mobilize those affected by cavernous malformation (cavernous angioma, cavernoma) and drive research for better treatments and a cure.