Modifiers of Disease Severity in Cerebral Cavernous Malformations

Conditions:Women's Studies, Hematology
Therapuetic Areas:Hematology, Reproductive
Age Range:Any
Start Date:July 2009
End Date:July 2019
Contact:Helen Kim, PhD

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Modifiers of Disease Severity and Progression in Cerebral Cavernous Malformations

Cerebral cavernous malformations (CCMs) are clusters of abnormal blood vessels in the brain
and spine. CCMs can bleed and cause strokes, seizures, and headaches. CCMs are often caused
by an inherited gene mutation (alteration) in one of three CCM genes (CCM1, CCM2, or CCM3).
There is a wide range of disease severity even among family members with this disease, though
the natural history has not been clearly described for this particular population.

This study will examine factors that influence disease severity through the collection of
blood samples, detailed medical histories, physical and neurological exam, and magnetic
resonance imaging (MRI) of the brain in medical records. The specific goals of this study are

1. establish a registry/database of familial CCM cases with detailed clinical data,

2. perform genetic testing on participant blood samples to identify other genes that may
influence the development and hemorrhage of CCM lesions, and

3. determine lesion growth during the study.

This study is one of three projects participating in the Brain Vascular Malformation
Consortium (BVMC) funded by the Office of Rare Diseases Research, which is part of the
National Center for Advancing Translational Sciences (NCATS), and the National Institute of
Neurological Disorders and Stroke (NINDS). The CCM project is a cross-sectional and
longitudinal study of familial CCM patients. The study is currently in the second 5-year
cycle. During the first 5 year cycle, the CCM project was focused on recruiting CCM1 cases
with the common Hispanic mutation (CHM). For the second 5-year cycle, we are expanding
recruitment to include not only CCM1-CHM cases, but also other CCM familial patients and
mutation carriers. We will collect clinical, genetic, imaging, treatment, and outcome data in
participants, and follow the cohort over time to understand the natural history of this

For new study participants, you will be asked to:

- Give permission for study staff to access your medical records to collect clinical
information and to obtain copies of MRI scans and reports

- Fill out a questionnaire about your quality of life, family history, and
medical/surgical history

- Give a blood sample and/or saliva sample

- Give permission to store and use your CCM resected tissue for research (if undergoing

- Participate in annual follow-ups to update medical, surgical, and neurological

Inclusion Criteria:

- Have a confirmed diagnosis of familial CCM by DNA testing, or

- Meet 2 of the 3 following criteria:

- Clinical diagnosis of familial CCM

- Evidence of multiple cavernous malformations on MRI

- Someone in your immediate or extended family has a clinical diagnosis of CCM

Exclusion Criteria:

- Incarceration

- Homeless
We found this trial at
Albuquerque, New Mexico 87131
Principal Investigator: Atif Zafar, MD
Phone: 505-272-3194
Albuquerque, NM
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Durham, North Carolina 27713
Phone: 757-818-0403
Durham, NC
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Phoenix, Arizona 85013
Phone: 602-406-6267
Phoenix, AZ
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San Francisco, California 94143
Principal Investigator: Helen Kim, PhD
Phone: 415-502-2151
San Francisco, CA
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