The International Cavernous Angioma Patient Registry

University of New Mexico Genetics of Disease Severity Study

University of New Mexico Genetics of Disease Severity Study

To use medical history, magnetic resonance imaging, and DNA analysis to determine the factors that influence Cavernous Angioma (Cerebral Cavernous Malformation) disease severity and variability.

 

Objectives of the Study

To use medical history, magnetic resonance imaging, and DNA analysis to determine the factors that influence Cavernous Angioma (Cerebral Cavernous Malformation) disease severity and variability.

Background

Individuals with Cerebral Cavernous Malformations (CCMs) have clusters of abnormally enlarged blood vessels in the brain and spinal cord that can cause problems such as neurological deficits, death, seizures or disabilities. The Common Hispanic Mutation (CCM1-CHM) is an inherited form of CCMs frequently seen in Hispanic families of the Southwest. However, even among family members with the exact same disease-causing mutation, a wide range in clinical symptoms is observed. The purpose of this study is to understand the natural history, morbidity, and mortality of people living with the Common Hispanic Mutation. In this study, we will collect clinical, genetic, and environmental information for people with CCM1-CHM to look for risk factors affecting CCM disease severity

You may be eligible to participate if

·      You have been diagnosed with CCM or if you are a family member at risk for inheritance of CCM

·      You are age 7 or older

·      You are willing to comply with study requirements (blood draws, detailed medical exam and history, MRI)

·      You are able to travel to the University of New Mexico in Albuquerque

·      You are able to pass MRI safety screening (e.g. not pregnant, not claustrophobic, no metal implants)

·      You are willing/able to participate in study for 5 years (study visits and phone calls)

Interested persons should contact

Beth Baca, Study Coordinator

Email: This e-mail address is being protected from spambots. You need JavaScript enabled to view it

Phone: 505-272-3194

Leslie Morrison, Principal Investigator

Email: This e-mail address is being protected from spambots. You need JavaScript enabled to view it

Phone: 505.272.3342

 More Information

This study is conducted as part of the Rare Disease Clinical Research Network.  For more details for this project and related studies please visit: http://rarediseasesnetwork.epi.usf.edu/BVMC/CCM

 

Research Studies

Research Study of Patient Experiences with Cavernous Malformation/Cavernous Angioma

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Permeability MRI in Cerebral Cavernous Malformations type 1 in New Mexico: Effects of Statins

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University of New Mexico Genetics of Disease Severity Study

To use medical history, magnetic resonance imaging, and DNA analysis to determine the factors that influence Cavernous Angioma (Cerebral Cavernous Malformation) disease severity and variability.

 

Read more...
 

Scottish Audit of Intracranial Vascular Malformations (SAIVMs)


The purpose of the Scottish Audit of Intracranial Vascular Malformations (SAIVMs) is to monitor the quality of care, treatment, and outcomes for adults with vascular malformations of the brain, in order to improve the care and services we provide. SAIVMs does this by trying to find every adult resident in Scotland, who is newly diagnosed with one of the malformations above, and enrolling them in a confidential audit. SAIVMs aims to include every adult in order to get a truly representative picture of what happens to people with your condition in Scotland.

 

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University of New Mexico Skin Lesion Study

Researchers at the New Mexico Dermatology Department are currently recruiting subjects for a study on Cerebral Cavernous Malformations (CCM) and the patients who carry the “Common Hispanic” genetic mutation for this disease.  For this study researchers are looking for individuals who are genetically proven to carry the Common Hispanic mutation for CCM and who also have blood vessel malformations in their skin.

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Alliance News

**NEW** Visit the Angioma Alliance Community Hub for more information and news updates and community features including: 

(www.angiomacommunity.org)

The Angioma Alliance Forum

This is a forum for discussions about cavernous angiomas, also called cavernous malformations or cerebral cavernous malformations. Visit the Angioma Alliance Forum to discuss the illness, treatment and more, and to interact with others affected by the condition.

The Angioma Alliance Blog

Angioma Alliance runs a blog, providing news and information about cavernous angioma, including information about the latest research and events. Visit the Angioma Alliance Blog.

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Completed Studies

Duke University Genetic Study – Cavernous Angioma and Ashkenazi Jewish Ancestry

Researchers at Duke University are researching as specific genetic mutation that has been identified in multiple unrelated individuals with Ashkenazi Jewish ancestry.  The objective of this study is to determine the function of this mutation at a molecular level. 

 

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