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at San Francisco, California and other locations
study started
estimated completion:



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) called CCM1. 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 to: 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.

Official Title

Modifiers of Disease Severity and Progression in Cerebral Cavernous Malformations


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 disease.

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 surgery)
  • Participate in annual follow-ups to update medical, surgical, and neurological information


Cavernous Angioma, Familial Cerebral Cavernous Malformations Cerebral Cavernous Hemangioma Congenital Abnormalities Hemangioma Hemangioma, Cavernous, Central Nervous System Hemangioma, Cavernous


You can join if…

  • 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

You CAN'T join if...

  • Incarceration


  • University of California, San Francisco accepting new patients
    San Francisco, California, 94143, United States
  • Barrow Neurological Institute accepting new patients
    Phoenix, Arizona, 85013, United States
  • University of New Mexico Health Sciences Center accepting new patients
    Albuquerque, New Mexico, 87131, United States
  • Angioma Alliance accepting new patients
    Durham, North Carolina, 27713, United States


accepting new patients
Start Date
Completion Date
University of New Mexico
Angioma Alliance is an organization by and for those affected by cavernous angiomas and their loved ones, health professionals, and researchers.
Lead Scientist
Helen Kim
Study Type
Observational [Patient Registry]
Last Updated
February 22, 2018
I’m interested in this study!