ID

44990

Description

Principal Investigator: Joseph P. Broderick, MD, Department of Neurology, University of Cincinnati, Cincinnati, OH, USA MeSH: Intracranial Aneurysm,Aortic Aneurysm, Abdominal https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000293 Our long-term objective is to identify susceptibility genes that are related to the formation of intracranial aneurysms (IA). Rupture of IAs occurs in 16,000 to 17,000 persons in the U.S. annually and nearly half of affected persons are dead within the first 30 days. An additional 6,000 to 7,000 persons with unruptured IAs are identified each year. Accumulated evidence indicates that a genetic component plays an important role in the development of IAs, but specific loci affecting the risk of IA have not been identified. The primary hypothesis of this study is that there are specific human chromosomal regions that are associated with an increased risk of IAs. Specific Aims of are:- Recruitment of 400 (475) families with multiple individuals who have an IA through 23 (25) referral centers throughout North America, Australia, and New Zealand that represent 35 (40) recruitment sites. - Ascertainment of interviews and blood samples from all affected family members as well as their first-degree relatives. White blood cells from living persons with an IA will be cryopreserved at Coriell Institute for Medical Research for future immortalization of cells lines as indicated. - Identification of unruptured IAs by obtaining MRAs in selected asymptomatic siblings (of affected individuals). - Completion of a 10 cM genome series in persons with IAs as well as the spouses and children of persons with an IA who are deceased. We will perform finer mapping of chromosomal regions with suggestive evidence of linkage in the genome screen. - Performance of a nonparametric (allele sharing) linkage analysis, including relevant environmental factors such as smoking, to identify chromosomal regions linked to IA. Reconstruction of the genotypes of deceased affected family members will be performed. Identification of individuals who are genetically at high risk for the development of IAs would enable targeted and effective screening/prevention/treatment strategies to reduce the substantial mortality and morbidity associated with this devastating type of stroke. Only a multidisciplinary, collaborative effort to identify, accrue, and genotype FIA families will be successful in identifying sufficient high-risk families to characterize the genetic underpinnings of IA.

Link

https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000293

Keywords

  1. 6/22/22 6/22/22 - Dr. Christian Niklas
  2. 10/12/22 10/12/22 - Adrian Schulz
Copyright Holder

Joseph P. Broderick, MD, Department of Neurology, University of Cincinnati, Cincinnati, OH, USA

Uploaded on

June 22, 2022

DOI

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License

Creative Commons BY 4.0

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dbGaP phs000293 The Familial Intracranial Aneurysm Linkage Study (FIA)

Eligibility Criteria

Inclusion and exclusion criteria
Description

Inclusion and exclusion criteria

**Inclusion Criteria for Phenotype of IA - Definition of Affected Family Member**
Description

Elig.phs000293.v1.p1.1

Data type

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0031437
UMLS CUI [1,3]
C0751003
UMLS CUI [2,1]
C1512693
UMLS CUI [2,2]
C0241889
Ruptured or unruptured IA as demonstrated by intra-arterial cerebral angiography, surgery, or autopsy.
Description

Elig.phs000293.v1.p1.2

Data type

boolean

Alias
UMLS CUI [1,1]
C0751003
Patients with a severe non-traumatic SAH, who do not undergo cerebral angiography to document their aneurysm because of early mortality or vegetative condition, will be designated as SAH due to presumed IA rupture. Massive non-traumatic SAH that results in early death is almost always due to rupture of an IA. These persons will be included as an affected case if the following conditions are met: a) non-traumatic abrupt onset of severe headache or altered level of consciousness that is associated with blood in the subarachnoid space on CT or at autopsy, b) widespread SAH by CT or autopsy, not limited to the interpeduncular cistern, c) no evidence of a structural cause of SAH other than IA by CT or MR brain imaging.
Description

Elig.phs000293.v1.p1.3

Data type

boolean

Alias
UMLS CUI [1,1]
C3862768
UMLS CUI [1,2]
C1298908
UMLS CUI [1,3]
C1658602
UMLS CUI [2,1]
C3846158
**Exclusion Criteria**
Description

Elig.phs000293.v1.p1.4

Data type

boolean

Alias
UMLS CUI [1,1]
C0680251
Fusiform-shaped unruptured IA of a major intracranial trunk artery or IA which is part of an arteriovenous malformation.
Description

Elig.phs000293.v1.p1.5

Data type

boolean

Alias
UMLS CUI [1,1]
C0155730
UMLS CUI [1,2]
C0332493
UMLS CUI [1,3]
C0917804
UMLS CUI [1,4]
C0555939
Family history of polycystic kidney disease, Ehlers Danlos Syndrome, Marfan's Syndrome, fibromuscular dysplasia, or Moya-Moya syndrome (abnormal proliferation of small intracranial vessels that results from primary occlusion of intracranial arteries and can lead to SAH and ICH).
Description

Elig.phs000293.v1.p1.6

Data type

boolean

Alias
UMLS CUI [1,1]
C0241889
UMLS CUI [1,2]
C0022680
UMLS CUI [2,1]
C0241889
UMLS CUI [2,2]
C0013720
UMLS CUI [3,1]
C0241889
UMLS CUI [3,2]
C0024796
UMLS CUI [4,1]
C0241889
UMLS CUI [4,2]
C1847887
UMLS CUI [5,1]
C0241889
UMLS CUI [5,2]
C0016052
Failure to obtain informed consent from patient and family.
Description

Elig.phs000293.v1.p1.7

Data type

boolean

Alias
UMLS CUI [1,1]
C0021430
UMLS CUI [1,2]
C0332268

Similar models

Eligibility Criteria

Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
Inclusion and exclusion criteria
Elig.phs000293.v1.p1.1
Item
**Inclusion Criteria for Phenotype of IA - Definition of Affected Family Member**
boolean
C1512693 (UMLS CUI [1,1])
C0031437 (UMLS CUI [1,2])
C0751003 (UMLS CUI [1,3])
C1512693 (UMLS CUI [2,1])
C0241889 (UMLS CUI [2,2])
Elig.phs000293.v1.p1.2
Item
Ruptured or unruptured IA as demonstrated by intra-arterial cerebral angiography, surgery, or autopsy.
boolean
C0751003 (UMLS CUI [1,1])
Elig.phs000293.v1.p1.3
Item
Patients with a severe non-traumatic SAH, who do not undergo cerebral angiography to document their aneurysm because of early mortality or vegetative condition, will be designated as SAH due to presumed IA rupture. Massive non-traumatic SAH that results in early death is almost always due to rupture of an IA. These persons will be included as an affected case if the following conditions are met: a) non-traumatic abrupt onset of severe headache or altered level of consciousness that is associated with blood in the subarachnoid space on CT or at autopsy, b) widespread SAH by CT or autopsy, not limited to the interpeduncular cistern, c) no evidence of a structural cause of SAH other than IA by CT or MR brain imaging.
boolean
C3862768 (UMLS CUI [1,1])
C1298908 (UMLS CUI [1,2])
C1658602 (UMLS CUI [1,3])
C3846158 (UMLS CUI [2,1])
Elig.phs000293.v1.p1.4
Item
**Exclusion Criteria**
boolean
C0680251 (UMLS CUI [1,1])
Elig.phs000293.v1.p1.5
Item
Fusiform-shaped unruptured IA of a major intracranial trunk artery or IA which is part of an arteriovenous malformation.
boolean
C0155730 (UMLS CUI [1,1])
C0332493 (UMLS CUI [1,2])
C0917804 (UMLS CUI [1,3])
C0555939 (UMLS CUI [1,4])
Elig.phs000293.v1.p1.6
Item
Family history of polycystic kidney disease, Ehlers Danlos Syndrome, Marfan's Syndrome, fibromuscular dysplasia, or Moya-Moya syndrome (abnormal proliferation of small intracranial vessels that results from primary occlusion of intracranial arteries and can lead to SAH and ICH).
boolean
C0241889 (UMLS CUI [1,1])
C0022680 (UMLS CUI [1,2])
C0241889 (UMLS CUI [2,1])
C0013720 (UMLS CUI [2,2])
C0241889 (UMLS CUI [3,1])
C0024796 (UMLS CUI [3,2])
C0241889 (UMLS CUI [4,1])
C1847887 (UMLS CUI [4,2])
C0241889 (UMLS CUI [5,1])
C0016052 (UMLS CUI [5,2])
Elig.phs000293.v1.p1.7
Item
Failure to obtain informed consent from patient and family.
boolean
C0021430 (UMLS CUI [1,1])
C0332268 (UMLS CUI [1,2])

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