Familial Intracranial Aneurysm Study II

NCT ID: NCT00071565

Last Updated: 2015-08-18

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 5875 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2002-09-30
• Study Completion Date: 2015-05-31

Brief Summary

The purposes of this study are to identify possible genes that may increase the risk of aneurysm development in the brain, and to determine the effect of environmental factors such as cigarette smoking and high blood pressure on the expression of these genes.

Detailed Description

Intracranial aneurysms are "blisters" which form within the arteries at the base of the brain. A rupture of an aneurysm may lead to subarachnoid hemorrhage (SAH). The mortality rates of patients suffering from a SAH is 40 to 44 percent , with many survivors enduring major disability. Most of the deaths from SAH are due to rapid and massive brain injury from the initial bleeding, which is not correctable by medical and surgical intervention. Thus, prevention of aneurysm formation is of paramount importance.

Scientific evidence suggests that a genetic component plays an important role in the development of intracranial aneurysms, however the specific genes have not been identified. The Familial Intracranial Aneurysm Study is a collaborative research effort of neurologists and neurosurgeons throughout the United States, Canada, Australia and New Zealand to identify possible genes that may increase the risk of stroke, and particularly, the development of aneurysms in the blood vessels of the brain. This study will involve 475 families with multiple affected family members, and will also determine the effect of environmental factors such as cigarette smoking and high blood pressure on the expression of the genes.A group of physicians from throughout North America, Australia and New Zealand have formed a collaborative effect to identify genes that may be important in the development of aneurysms in the blood vessels of the brain. This study of affected individuals and families, known as the Familial Intracranial Aneurysm (FIA) study, is sponsored by the National Institutes of Health and has involved over 475 families.

FIA II will involve an additional 200 families plus 1800 subjects with an Intracranial Aneurysm but no family history. These families and individuals will be used to replicate the findings of FIA I. FIA II will take place in North America only.

To be eligible to participate in this study, families must have two or more affected pairs of siblings (brothers/sisters) or 3 or more family members affected with intracranial aneurysms. Subjects can participate if they do not have an eligible family history, but do have a confirmed intracranial aneurysm.

Participants will be asked to complete a family history questionnaire (if they have a family history) and a medical history questionnaire. They will also have their blood pressure measured and will give a small sample of blood. In addition, medical records will be requested to confirm the diagnosis of intracranial aneurysms. There will be no monetary compensation for participation.

The identification of susceptibility genes, along with a better understanding of environmental interactions such as cigarette smoking, may result in preventing the development of intracranial aneurysms and/or intracranial aneurysm ruptures in people who are at risk for this condition.

Conditions

Intracranial Aneurysm; Subarachnoid Hemorrhage

Study Design

• Observational Model Type: FAMILY_BASED
• Study Time Perspective: PROSPECTIVE

Study Groups

1

475 families with multiple affected family members (phase I) 200 families with multiple affected family members (phase II) 1800 subjects with sporadic intracranial aneurysms

No interventions assigned to this group

Eligibility Criteria

Inclusion Criteria

• To be eligible to participate in this study, families must have two or more affected pairs of siblings (brothers/sisters) or 3 or more family members affected with intracerebral aneurysms.

Sporadic aneurysm subjects must have a confirmed aneurysm.

Exclusion:

• A history of polycystic kidney disease, Marfan's Syndrome, Ehlers Danlos Syndrome, or fibromuscular dysplasia.

• Minimum Eligible Age: 13 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

National Institute of Neurological Disorders and Stroke (NINDS)

NIH

Sponsor Role: collaborator

University of Cincinnati

OTHER

Sponsor Role: lead

Responsible Party

Joseph Broderick

Joseph P. Broderick

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Joseph P. Broderick, M.D.

Role: PRINCIPAL_INVESTIGATOR

University of Cincinnati

Locations

University of Alabama

Birmingham, Alabama, United States

University of California,

San Francisco, California, United States

University of Florida

Gainesville, Florida, United States

Indianapolis Neurosurgical Group

Indianapolis, Indiana, United States

University of Maryland

Baltimore, Maryland, United States

Johns Hopkins University School of Medicine

Baltimore, Maryland, United States

Massachusetts General Hospital

Boston, Massachusetts, United States

Brigham & Women's Hospital

Boston, Massachusetts, United States

University of Michigan

Ann Arbor, Michigan, United States

Mayo Clinic

Rochester, Minnesota, United States

Washington University

St Louis, Missouri, United States

Columbia University,

New York, New York, United States

University of Cincinnati, Department of Neurology

Cincinnati, Ohio, United States

Allegheny General Hospital

Pittsburgh, Pennsylvania, United States

University of Virginia

Charlottesville, Virginia, United States

University of Washington

Seattle, Washington, United States

Countries

United States

References

Sauerbeck L, Hornung R, Woo D, Moomaw CJ, Anderson C, Connolly ES, Rouleau GA, Brown RD Jr, Broderick JP; FIA Study Investigators. Mortality and causes of death in the Familial Intracranial Aneurysm study. Int J Stroke. 2013 Dec;8(8):696-700. doi: 10.1111/j.1747-4949.2012.00857.x. Epub 2012 Aug 29.

Reference Type: DERIVED

PMID: 22928607 (View on PubMed)

Other Identifiers

R01NS039512-06A1

Identifier Type: NIH

Identifier Source: secondary_id

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R01NS039512

Identifier Type: NIH

Identifier Source: org_study_id

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