CCM3 Action Group

CCM3 Action connects people affected by the ultra-rare Cerebral Cavernous Malformation 3 genetic mutation, also known as PDCD10. Our mission is to create a supportive community, provide opportunities for quality treatment, and accelerate research toward a cure.

Toward this end, CCM3 Action engages in a number of activities:

  1. Conduct a search for all CCM3 diagnosed individuals using genetic testing laboratories, the internet, and other available channels.
  2. Establish a CCM3 Care and Clinical Research Center at the University of Chicago. The purpose of the Center is to provide an opportunity for consistent, expert evaluation and care for those with CCM3. Additionally, information gleaned from these evaluations will be incorporated into the Angioma Alliance DNA/Tissue Bank and Clinical Database and used for hypothesis generation.  We will also encourage CCM3 Action members to donate tissue should they have surgery. CCM3 Action will subsidize both travel and medical expenses for participants as needed.
  3. Fund pilot research projects related to CCM3 using a competitive RFP process
  4. Maintain a website with resources for patients, families, physicians, and researchers, opportunities for online social networking, and a landing page on the Angioma Alliance website
  5. Initiate other activities to fulfill our mission as may become available

Since our inception in 2011, CCM3 Action's work has resulted in a major paper describing additional features of this particular mutation, including scoliosis, aggressive childhood presentation, and a variety of benign brain tumors. We have also funded two research awards, one of which, to the University of Toronto, spawned data that was leveraged into a $900,000 grant.

For more information about the CCM3 mutation, visit CCM3 Mutation