Modifiers of Disease Severity in Cerebral Cavernous Malformations
Trial Summary
What is the purpose of this trial?
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.
Research Team
Helen Kim, PhD
Principal Investigator
University of California, San Francisco
Issam Awad, MD
Principal Investigator
University of Chicago
Eligibility Criteria
Inclusion Criteria
Treatment Details
Find a Clinic Near You
Who Is Running the Clinical Trial?
University of California, San Francisco
Lead Sponsor
Suresh Gunasekaran
University of California, San Francisco
Chief Executive Officer since 2022
MBA from Southern Methodist University
Dr. Lukejohn Day
University of California, San Francisco
Chief Medical Officer
MD from Stanford University School of Medicine
Angioma Alliance
Collaborator
Alliance to Cure Cavernous Malformation
Collaborator
University of New Mexico
Collaborator
Lisa Kuuttila
University of New Mexico
Chief Executive Officer since 2013
PhD in Pharmaceutical Sciences
David L. Perkins
University of New Mexico
Chief Medical Officer since 2015
MD, PhD
Boston Children's Hospital
Collaborator
Dr. Kevin B. Churchwell
Boston Children's Hospital
Chief Executive Officer since 2021
MD from Vanderbilt Medical School
Dr. Sarah Pitts
Boston Children's Hospital
Chief Medical Officer since 2019
MD from Harvard Medical School
University of Chicago
Collaborator
Pete Salzmann
University of Chicago
Chief Executive Officer since 2018
MD from University of Chicago’s Pritzker School of Medicine, MBA from Stanford University’s Graduate School of Business
Anh Nguyen
University of Chicago
Chief Medical Officer
MD from Rutgers New Jersey Medical School, MBA from University of Chicago
National Institute of Neurological Disorders and Stroke (NINDS)
Collaborator
Jordan Gladman
National Institute of Neurological Disorders and Stroke (NINDS)
Chief Medical Officer
MD from Harvard Medical School
Walter J. Koroshetz
National Institute of Neurological Disorders and Stroke (NINDS)
Chief Executive Officer since 2007
MD from the University of Chicago
Barrow Neurological Institute
Collaborator
Children's Hospital Medical Center, Cincinnati
Collaborator
Steve Davis
Children's Hospital Medical Center, Cincinnati
Chief Executive Officer since 2021
MD
Daniel Ostlie
Children's Hospital Medical Center, Cincinnati
Chief Medical Officer
MD from University of North Dakota