Modifiers of Disease Severity in Cerebral Cavernous Malformations

Summary

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.

Conditions

• Cavernous Angioma, Familial
• Cerebral Cavernous Malformations
• Cerebral Cavernous Hemangioma

Sponsors & Collaborators

• University of New Mexico

  collaborator OTHER

• University of Chicago

  collaborator OTHER

• National Institute of Neurological Disorders and Stroke (NINDS)

  collaborator NIH

• Boston Children's Hospital

  collaborator OTHER

• Children's Hospital Medical Center, Cincinnati

  collaborator OTHER

• Barrow Neurological Institute

  collaborator OTHER

• Alliance to Cure Cavernous Malformation

  collaborator UNKNOWN

• University of California, San Francisco

  lead OTHER

Principal Investigators

• Helen Kim, PhD · University of California, San Francisco

• Issam Awad, MD · University of Chicago

Eligibility

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2010-04-27

Primary Completion

2025-06-30

Completion

2025-06-30

Countries

• United States

Study Locations