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CCM3 Mutation

The CCM3 genetic mutation creates cerebral cavernous angiomas but has distinct features that warrant special consideration.

CCM3 is both an extremely rare and a more serious mutation than the other mutations that cause cerebral cavernous angiomas. As of this writing, we know of only 30 people who have been identified with the CCM3 mutation in the United States. At least half of those identified began to exhibit serious symptoms, including multiple brain hemorrhages, as children. It also appears that the CCM3 mutation may cause problems in other body systems or may contribute to other illnesses such as the development of benign brain tumors and scoliosis.

Because of this, Angioma Alliance has formed an Action Group that is specifically addressing this form of the illness. CCM3 Action is self-supporting and has established a CCM3 Care and Clinical Research Center at the University of Chicago, made travel awards so young CCM3 researchers may attend the Angioma Alliance Scientific Meeting, and awarded $25,000 research grants in 2013 and 2014. 

Final Reports for Research Awards

2013 Mitchell Asbury Memorial Award granted to Dr. Douglas Marchuk at Duke University

2014 MadoroM Research Award to Dr. Brent Derry and Dr. Ian Scott at Sickkids Hospital in Toronto

If you have been diagnosed with this particular mutation, you can find out more about CCM3 Action at www.ccm3.org

 

Subsidized CCM3 Genetic Testing

The CCM3 Action group has been offering subsized CCM3 clinical diagnostic testing to people who have both multiple cavernous angiomas and a meningioma. The group is now expanding the criteria for subsidized testing (please note, testing is for a CCM3 genetic mutation only, not CCM1 or CCM2). Only about 30 people in the US have tested positive for a CCM3 mutation and one of the goals of this Angioma Alliance action group is to find others who are affected by this ultra-rare form of the illness.

The criteria for subsidized testing are a bit complicated. Please read through them carefully. In addition to having multiple cavernous angiomas, you must meet one of the other major criteria (meningioma, scoliosis, or benign brain tumor). With scoliosis or a benign brain tumor, you also must have one additional characteristic from the list below each. If you think you or your child qualify, please contact Connie Lee at clee@angioma.org and let her know how you qualify so you can discuss testing.

Criteria:
You must have multiple cavernous angiomas in your brain.

Also, you must meet any one of the following 3 criteria:

1. Have a meningioma


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2. Have scoliosis (child or adolescent onset with a Cobb angle greater than 20 degrees), plus one of the following:

a. First brain hemorrhage before age 15
b. Have a benign brain tumor (for example, astrocytoma or vestibular schwannoma)
c. Are the first in the family with the illness
d. If a female who is post puberty, have experienced fertility issues (could be diagnosed with polycystic ovarian disease or endometriosis)
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3. Have a benign brain tumor such as an astrocytoma or vestibular schwannoma, plus one of the following:

a. First brain hemorrhage before age 15
b. Scoliosis (child or adolescent onset with a Cobb angle greater than 20 degrees)
c. Are the first in the family with the illness
d. If a female who is post puberty, have experienced fertility issues (could be diagnosed with polycystic ovarian disease or endometriosis)

This page was last updated on 7/30/2014