Award to Fund Testing of Medications in Mice with Mutations on the CCM3 Gene Causing Cerebral Cavernous Malformations

For Immediate Release

NORFOLK, Va,/EWORLDWIRE/Jan. 4, 2013 --- CCM3 Action has honored Dr. Douglas Marchuk of Duke University with the $25,000 Mitchell Asbury Memorial Award.

The award will be used by Dr. Marchuk to support laboratory testing of the drugs Fasudil and Simvastatin, marketed under the name Zocor, in mice with a mutation on the CCM3 gene. The proposed research will focus on determining whether these medications can limit the formation of abnormal blood vessels in the brain, known as cavernous angiomas or cerebral cavernous malformations, and if use of the drugs can reduce progression and hemorrhage in existing lesions.

Fasudil and Simvastatin have shown promise in animal model studies of CCM1 and CCM2, two other genetic causes of cerebral cavernous malformation development.

"A mutation on the CCM3 gene is often tied to recurrent brain hemorrhage and seizure in both children and adults, and there are no current medication treatment options," stated Dr. Connie Lee, CCM3 Action program coordinator. "Dr. Marchuk's work will determine whether clinical trials employing these medications are warranted. Because results can be immediately translated into human treatment studies, this research is especially exciting for the patient community."

The Mitchell Asbury Memorial Award was named for a patient who passed away in 2010, at the age of 53, from complications of CCM3. CCM3 Action is honored to continue his memory with this inaugural grant award.

Dr. Marchuk is a professor and vice chair of the Department of Molecular Genetics and Microbiology at Duke University, and he is director of the Duke University Program in Genetics and Genomics. He has been on the Scientific Advisory Board of Angioma Alliance, the parent organization of CCM3 Action, since 2002.

About CCM3 Action
Unlike its parent organization Angioma Alliance, CCM3 Action is focused entirely on the most severe cause of cerebral cavernous malformations - a mutation on the CCM3 gene, which is an apparently ultra-rare condition. Like other forms of cavernous angioma illness, a mutation on the CCM3 gene causes the formation of cavernous angiomas - abnormal blood vessels in the brain that resemble mulberries. These can hemorrhage and grow, potentially causing severe neurological deficits, epilepsy, and death.

In contrast to other genetic and sporadic forms of this illness that typically have an adult onset, 50 percent of individuals with a CCM3 mutation have their first brain hemorrhage as children. They also tend to develop a larger number of lesions and have more hemorrhages over a lifetime than those with other forms of the illness. Thirty-two individuals with this particular mutation have been identified in the United States. Brain surgery is the only available treatment.

For more information about cavernous angiomas, visit http://www.Angioma.org. More information about the CCM3 mutation and CCM3 Action is available at http://www.CCM3.org.

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CONTACT:
Cornelia Lee
CCM3 Action
520 W 21st St STE G2-411
Norfolk, VA 23517
PHONE. 757-344-0562
EMAIL: clee@angioma.org
http://www.ccm3.org

KEYWORDS: gene research, genetic research, cavernous malformation, cavernous angioma, Duke University, grant, CCM3, medical research

SOURCE: CCM3 Action