UMIN-CTR Clinical Trial

Basic information
Public title	Genetic Analysis Study of Neurosurgical Diseases
Acronym	GASND
Scientific Title	Genetic Analysis Study of Neurosurgical Diseases
Scientific Title:Acronym	GASND
Region	Japan

Condition
Condition	Cerebral aneurysms, cerebral arteriovenous malformations, epilepsy
Classification by specialty	Neurosurgery
Classification by malignancy	Others
Genomic information	YES

Objectives
Narrative objectives1	Elucidation of causative genes, disease susceptibility genes, and modifier genes in neurosurgical diseases (cerebrovascular disorders, epilepsy)
Basic objectives2	Others
Basic objectives -Others	Neurosurgical procedures allow to obtain tissue samples from pathological brain and vascular structures and be submitted to genetic analysis. Such samples, complemented with post-mortem samples from neurosurgical patients and parallel blood samples makes possible the identification of somatic mutations related to important neurosurgical conditions and investigation of their expression.
Trial characteristics_1	Others
Trial characteristics_2	Others
Developmental phase	Not applicable

Assessment
Primary outcomes	Elucidate disease pathogenesis by identifying disease-causing, disease-susceptibility, and modifying genetic mutations.
Key secondary outcomes	Paired tissue and blood analysis can reveal the presence of somatic mutations that are important for pathogenesis.

Base
Study type	Observational

Study design
Basic design
Randomization
Randomization unit
Blinding
Control
Stratification
Dynamic allocation
Institution consideration
Blocking
Concealment

Intervention
No. of arms
Purpose of intervention
Type of intervention
Interventions/Control_1
Interventions/Control_2
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Interventions/Control_9
Interventions/Control_10

Eligibility
Age-lower limit	Not applicable
Age-upper limit	Not applicable
Gender	Male and Female
Key inclusion criteria	1) Patients with established diagnosis of cerebrovascular disease and epilepsy and a control group (patients who were treated for conditions other than the target diseases) will be included in the analysis. If intrafamilial clustering or inherited disease is strongly suspected, and the importance and validity of linkage analysis are considered to be very high, family members (siblings, parents, children, other relatives etc.) will be included in the analysis of this study. 2) Patients who have visited an affiliated to the study hospital that was approved by the Ethics Committee to conduct the study. 3) Regardless of age or gender. 4) Adults who have given their written consent. Minors under 20 years of age or patients with cerebrovascular diseases and epilepsy who cannot be held legally responsible will require a consent of their parents or guardians.
Key exclusion criteria	Exclude cases where the above eligibility criteria are not met.
Target sample size	450

Research contact person
Name of lead principal investigator	1st name Hirofumi Middle name Last name Nakatomi
Organization	RIKEN
Division name	Center for Brain Science, Biomedical neural dynamics collaboration laboratory
Zip code	351-0198
Address	2-1, Hirosawa, Wako-shi, Saitama, Japan
TEL	048-467-9266
Email	hirofumi.nakatomi@riken.jp

Public contact
Name of contact person	1st name Hirofumi Middle name Last name Nakatomi
Organization	RIKEN
Division name	Center for Brain Science, Biomedical neural dynamics collaboration laboratory
Zip code	351-0198
Address	2-1, Hirosawa, Wako-shi, Saitama, Japan
TEL	048-467-9266
Homepage URL
Email	hirofumi.nakatomi@riken.jp

Sponsor
Institute	RIKEN Center for Brain Science
Institute
Department

Funding Source
Organization	RIKEN Center for Brain Science
Organization
Division
Category of Funding Organization	Other
Nationality of Funding Organization	Japan

Other related organizations
Co-sponsor
Name of secondary funder(s)

IRB Contact (For public release)
Organization	Research Ethics First Committee Bureau (Safety Management Department Biosafety Division)
Address	2-1, Hirosawa, Wako-shi, Saitama 351-0198, Japan RIKEN
Tel	048-467-9266
Email	human@riken.jp

Secondary IDs
Secondary IDs	NO
Study ID_1
Org. issuing International ID_1
Study ID_2
Org. issuing International ID_2
IND to MHLW

Institutions
Institutions	札幌禎心会病院（北海道）、東京大学医学部附属病院（東京都）、杏林大学医学部附属病院（東京都）、富永病院（大阪府）

Other administrative information
Date of disclosure of the study information	2021 Year 09 Month 01 Day

Related information
URL releasing protocol
Publication of results	Unpublished

Result
URL related to results and publications
Number of participants that the trial has enrolled
Results
Results date posted
Results Delayed
Results Delay Reason
Date of the first journal publication of results
Baseline Characteristics
Participant flow
Adverse events
Outcome measures
Plan to share IPD
IPD sharing Plan description

Progress
Recruitment status	Enrolling by invitation
Date of protocol fixation	2019 Year 05 Month 20 Day
Date of IRB	2019 Year 05 Month 20 Day
Anticipated trial start date	2019 Year 05 Month 21 Day
Last follow-up date	2024 Year 03 Month 31 Day
Date of closure to data entry
Date trial data considered complete
Date analysis concluded

Other

Other related information

The purpose of this study is to elucidate the pathogenesis of some most common neurosurgically treated diseases (cerebrovascular disorders, epilepsy) by identifying causative, disease susceptibility, and modifier genetic mutations. The ability to obtain directly specimens of diseased intracranial and brain structures during neurosurgical operations for cerebrovascular disease and epilepsy is a unique opportunity to investigate these structures. Investigated together with parallel blood samples and collecting autopsy specimens can allow extensive genetic analysis for the presence of somatic mutations in potential causative relation to the investigated neurological diseases. In the cerebrovascular diseases domain, the main focus will be on cerebral aneurysms that lead to frequent disability and death after rupture, and cerebral arteriovenous malformations, which also often cause hemorrhage, epilepsy and ischemia.

Management information
Registered date	2021 Year 08 Month 25 Day
Last modified on	2021 Year 08 Month 25 Day

Link to view the page
URL(English)	https://upload.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000051656