UMIN-ICDS Clinical Trial
| Unique ID issued by UMIN | UMIN000053919 |
|---|---|
| Receipt number | R000061544 |
| Scientific Title | The study on significance of comprehensive genome analysis for patients who are suspected hereditary cancer syndrome |
| Date of disclosure of the study information | 2024/04/01 |
| Last modified on | 2024/03/20 23:29:08 |
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Basic information
Public title
The study on significance of comprehensive genome analysis for patients who are suspected hereditary cancer syndrome
Acronym
The study on significance of comprehensive genome analysis for patients who are suspected hereditary cancer syndrome
Scientific Title
The study on significance of comprehensive genome analysis for patients who are suspected hereditary cancer syndrome
Scientific Title:Acronym
The study on significance of comprehensive genome analysis for patients who are suspected hereditary cancer syndrome
Region
| Japan |
Condition
Condition
hereditary cancer syndrome
Classification by specialty
| Gastroenterology | Hematology and clinical oncology | Gastrointestinal surgery |
| Laboratory medicine |
Classification by malignancy
Malignancy
Genomic information
YES
Objectives
Narrative objectives1
Genetic testing for hereditary cancer syndrome is widely conducted in clinical practice. Genetic testing covered by medical insurance is mainly performed by laboratory testing company. It usually consists of sequencing in coding region and exon-intron boundaries and examining copy number variant for exons such as MLPA methods. But this method can't detect some kinds of variant. Therefore, additional analysis has to be required to reveal such kinds of variants.
The purpose of this study is to show the significance of additional analysis such as whole genome sequencing, RNAseq and methylation analysis.
Basic objectives2
Efficacy
Basic objectives -Others
Trial characteristics_1
Trial characteristics_2
Developmental phase
Assessment
Primary outcomes
The detection rate of pathogenic variant by additional analysis in cases which genetic testing provided by laboratory testing company can't detect pathogenic variant, however, hereditary cancer syndrome is suspected due to clinical findings.
Key secondary outcomes
Base
Study type
Others,meta-analysis etc
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
Interventions/Control_8
Interventions/Control_9
Interventions/Control_10
Eligibility
Age-lower limit
| 18 | years-old | <= |
Age-upper limit
| Not applicable |
Gender
Male and Female
Key inclusion criteria
Patients who undergo genetic testing
1) Aged 18 or older
2) who undergo enetic testing which is provided by laboratory testing company, but can't be reached to final diagnosis as hereditary cancer syndrome
3) who undergo enogh explaination for this study and understand the significance of the research, expressing consent by their own will.
Relatives of the subject who was diagnosed as VUS of responsible gene
1) Relatives within the second degree relatives of the subject with VUS
2) Aged 18 or older
3) Who undergo enogh explaination for this study and understand the significance of the research, expressing consent by their own will.
Key exclusion criteria
1) Final diagnosis as hereditary cancer syndrome can be reached by routine genetic testing provided by laboratory testing company.
2) Person who lack consent ability to this study including genetic testing (Representative consenter is required).
3) Person that research representative decides to be inappropriate as a subject
Target sample size
50
Research contact person
Name of lead principal investigator
| 1st name | Masami |
| Middle name | |
| Last name | Arai |
Organization
Juntendo University, Graduate School of Medicine
Division name
Department of Clinical Genetics
Zip code
113-8421
Address
Hongo2-1-1, Bunkyo-ku, Tokyo
TEL
+81338133111
ms-arai@juntendo.ac.jp
Public contact
Name of contact person
| 1st name | Masami |
| Middle name | |
| Last name | Arai |
Organization
Juntendo University, Graduate School of Medicine
Division name
Department of Clinical Genetics
Zip code
113-8421
Address
Hongo2-1-1, Bunkyo-ku, Tokyo
TEL
+81338133111
Homepage URL
ms-arai@juntendo.ac.jp
Sponsor or person
Institute
Department of Clinical genetics,
Juntendo University, Graduate School of medicine
Institute
Department
Personal name
Funding Source
Organization
Juntendo University, cBioinformatics
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
Research Ethics Committee Faculty of Medicine, Juntendo University
Address
Hongo3-1-3, Bunkyo-ku, Tokyo
Tel
03-5802-1584Ho
hongo-rinri@juntendo.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
| 2024 | Year | 04 | 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
Preinitiation
Date of protocol fixation
| 2024 | Year | 03 | Month | 03 | Day |
Date of IRB
| 2024 | Year | 03 | Month | 08 | Day |
Anticipated trial start date
| 2024 | Year | 04 | Month | 01 | Day |
Last follow-up date
| 2027 | Year | 12 | Month | 31 | Day |
Date of closure to data entry
Date trial data considered complete
Date analysis concluded
| 2028 | Year | 12 | Month | 31 | Day |
Other
Other related information
Nothing worth mentioning
Management information
Registered date
| 2024 | Year | 03 | Month | 20 | Day |
Last modified on
| 2024 | Year | 03 | Month | 20 | Day |
Link to view the page
Value
https://center6.umin.ac.jp/cgi-open-bin/icdr_e/ctr_view.cgi?recptno=R000061544
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