Clinical trial NCT00071565: Familial Intracranial Aneurysm Study II
Official title: Familial Intracranial Aneurysm Study II
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Intracranial Aneurysm
Subarachnoid Hemorrhage
Keywords: familial intracranial aneurysm
intracranial aneurysm
brain aneurysm
aneurysm
subarachnoid hemorrhage
stroke
Lead sponsor: University of Cincinnati
Sponsor class: OTHER
Collaborators: name: National Institute of Neurological Disorders and Stroke (NINDS)
First posted: 2003-10-29
Enrollment: 5875
Sex: ALL
Minimum age (years): 13
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: FAMILY_BASED
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: 475 families with multiple affected family members will be selected in this collaborative research effort of neurologists and neurosurgeons throughout the United States, Canada, Australia and New Zealand (completed during phase I) 200 Families with multiple affected family members located in North America, and an additional 1800 subjects with sporadic aneurysm without a qualifing family history.

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.

Eligibility criteria: Inclusion:

* 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.

Primary outcomes:
Secondary outcomes:
Other outcomes:
Locations:
city: Birmingham
country: United States
facility: University of Alabama
state: Alabama
city: San Francisco
country: United States
facility: University of California,
state: California
city: Gainesville
country: United States
facility: University of Florida
state: Florida
city: Indianapolis
country: United States
facility: Indianapolis Neurosurgical Group
state: Indiana
city: Baltimore
country: United States
facility: University of Maryland
state: Maryland
city: Baltimore
country: United States
facility: Johns Hopkins University School of Medicine
state: Maryland
city: Boston
country: United States
facility: Massachusetts General Hospital
state: Massachusetts
city: Boston
country: United States
facility: Brigham & Women's Hospital
state: Massachusetts
city: Ann Arbor
country: United States
facility: University of Michigan
state: Michigan
city: Rochester
country: United States
facility: Mayo Clinic
state: Minnesota
city: St. Louis
country: United States
facility: Washington University
state: Missouri
city: New York
country: United States
facility: Columbia University,
state: New York
city: Cincinnati
country: United States
facility: University of Cincinnati, Department of Neurology
state: Ohio
city: Pittsburgh
country: United States
facility: Allegheny General Hospital
state: Pennsylvania
city: Charlottesville
country: United States
facility: University of Virginia
state: Virginia
city: Seattle
country: United States
facility: University of Washington
state: Washington
Study officials:
affiliation: University of Cincinnati
name: Joseph P. Broderick, M.D.
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.