UMIN-CTR Clinical Trial

Basic information
Public title	Investigation of germline mutation analysis via novel gene panel in Japan
Acronym	INSIGNIA study
Scientific Title	Investigation of germline mutation analysis via novel gene panel in Japan
Scientific Title:Acronym	INSIGNIA study
Region	Japan

Condition
Condition	Hereditary cancer, Familial hypercholesterolemia
Classification by specialty	Cardiology Hematology and clinical oncology
Classification by malignancy	Malignancy
Genomic information	YES

Objectives
Narrative objectives1	The purpose is to detect genetic varitants of those who are suspicious of hereditary cancer or familial hypercholesterolemia(FH) using the hereditary cancer gene panel and the FH gene panel. The target population is Japanese and data collected through these panels will be analyzed for genetic varitants, allele frequencies, and clinical information.
Basic objectives2	Efficacy
Basic objectives -Others
Trial characteristics_1	Exploratory
Trial characteristics_2	Others
Developmental phase	Not applicable

Assessment
Primary outcomes	Ratio of those with genetic variants, genetic variants, association of genetic variants and family/personal medical history
Key secondary outcomes

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
Interventions/Control_3
Interventions/Control_4
Interventions/Control_5
Interventions/Control_6
Interventions/Control_7
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Interventions/Control_9
Interventions/Control_10

Eligibility
Age-lower limit	1 years-old <
Age-upper limit	120 years-old >=
Gender	Male and Female
Key inclusion criteria	-Individuals who are suspicisou of hereditary cancer -Individuals who are suspicisou of familial hypercholestrolemia
Key exclusion criteria	-those who cannot consent
Target sample size	150

Research contact person
Name of lead principal investigator	1st name Masayuki Middle name Last name Yoshida
Organization	Tokyo Medical and Dental University
Division name	Department of Medical Genetics
Zip code	113-8519
Address	1-5-45 Yushima, Bunkyo, Tokyo, Japan
TEL	03-5803-4085
Email	idenbec@tmd.ac.jp

Public contact
Name of contact person	1st name Eriko Middle name Last name Takamine
Organization	Tokyo Medical and Dental University
Division name	Department of Medical Genetics
Zip code	1138519
Address	Bunkyo-ku
TEL	+81358034617
Homepage URL
Email	masa.vasc@tmd.ac.jp

Sponsor
Institute	Tokyo Medical and Dental University Department of Medical Genetics
Institute
Department

Funding Source
Organization	Patient pay
Organization
Division
Category of Funding Organization	Other
Nationality of Funding Organization

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

IRB Contact (For public release)
Organization	Tokyo Medical and Dental University
Address	1-5-45, Yushima, Bunkyo-ku, Tokyo
Tel	03-5803-5096
Email	rec.adm@tmd.ac.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

Other administrative information
Date of disclosure of the study information	2018 Year 12 Month 28 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	Open public recruiting
Date of protocol fixation	2018 Year 11 Month 27 Day
Date of IRB	2018 Year 11 Month 06 Day
Anticipated trial start date	2019 Year 01 Month 01 Day
Last follow-up date	2021 Year 03 Month 31 Day
Date of closure to data entry
Date trial data considered complete
Date analysis concluded

Other
Other related information	none

Management information
Registered date	2018 Year 12 Month 28 Day
Last modified on	2020 Year 12 Month 28 Day

Link to view the page
URL(English)	https://upload.umin.ac.jp/cgi-open-bin/icdr_e/ctr_view.cgi?recptno=R000040323