Modifiers of Disease Severity 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 continue to enroll and follow participants with familial CCM to identify factors that influence CCM disease severity and progression, focusing on barriers to clinical trial preparedness. Our long-term goal is to identify measurable outcomes and robust biomarkers that will help select high-risk patients and help monitor drug response in future clinical trials. The specific goals of this study are to: * Identify factors that influence lesion progression to symptomatic hemorrhage and other outcomes, including quality of life; * Investigate the role of the gut microbiome and lesion burden in CCM disease, and * Identify blood biomarkers predictive of CCM disease severity and progression for clinical trials.

Sex

All

Inclusion Criteria:

* Individual has a CCM mutation confirmed through DNA testing, or
* Individual meets 2 or more of the following clinical criteria:

  1. Clinical diagnosis of CCM
  2. Multi-focal CCMs on MRI
  3. Family history of CCM

Exclusion Criteria:

1. Individuals who are incarcerated
2. Individuals who are homeless
3. Unable or unwilling to sign the informed consent

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