UMIN-CTR Clinical Trial
| Unique ID issued by UMIN | UMIN000032145 |
|---|---|
| Receipt number | R000036670 |
| Scientific Title | The research for the frequency of sex chromosome genome variants and the gene variants associated with sex development, and phenotype of carriers with the variants in Japan. |
| Date of disclosure of the study information | 2018/04/07 |
| Last modified on | 2021/04/12 04:53:24 |
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Basic information
Public title
The research for the frequency of sex chromosome genome variants and the gene variants associated with sex development, and phenotype of carriers with the variants in Japan.
Acronym
The research for the frequency of sex chromosome genome variants and the gene variants associated with sex development, and phenotype of carriers with the variants in Japan.
Scientific Title
The research for the frequency of sex chromosome genome variants and the gene variants associated with sex development, and phenotype of carriers with the variants in Japan.
Scientific Title:Acronym
The research for the frequency of sex chromosome genome variants and the gene variants associated with sex development, and phenotype of carriers with the variants in Japan.
Region
| Japan |
Condition
Condition
disorders of sex development
Classification by specialty
| Obstetrics and Gynecology |
Classification by malignancy
Others
Genomic information
YES
Objectives
Narrative objectives1
To estimate frequencies and the phenotype of pathogenic variants related to disorders of sex development in the Japanese population, we will examine reported pathological variants in already known diagnostic genes for disorders of sex development in our reference panel of genomic variations, 3.5KJPN, which was created by whole-genome sequencing of 3344 individuals of the resident cohort of the Tohoku Medical Megabank Project.
Basic objectives2
Bio-equivalence
Basic objectives -Others
Trial characteristics_1
Trial characteristics_2
Developmental phase
Assessment
Primary outcomes
The frequencies and the phenotype of pathogenic variants related to disorders of sex development in the Japanese population.
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
Interventions/Control_8
Interventions/Control_9
Interventions/Control_10
Eligibility
Age-lower limit
| Not applicable |
Age-upper limit
| Not applicable |
Gender
Male and Female
Key inclusion criteria
We will use the 3.5KJPN whole genome reference panel (3344 individuals) and their questionnaires of the Tohoku Medical Megabank Project.
The subjects were selected from the participants of the resident cohort study, and then the genomic DNA of the 3344 individuals obtained from peripheral blood samples was subjected to paired-end sequencing using the Illumina HiSeq 2500 platform.
Key exclusion criteria
Not applicable
Target sample size
3344
Research contact person
Name of lead principal investigator
| 1st name | Junichi |
| Middle name | |
| Last name | Sugawara |
Organization
Tohoku Medical Megabank Organization
Division name
Department of Community Medical Supports
Zip code
9808574
Address
2-1, Seiryou-machi, Aoba-ku, Sendai, Miyagi
TEL
0227236283
jsugawara@med.tohoku.ac.jp
Public contact
Name of contact person
| 1st name | Junichi |
| Middle name | |
| Last name | Sugawara |
Organization
Tohoku Medical Megabank organization
Division name
Department of Community Medical Supports
Zip code
9808574
Address
2-1, Seiryou-machi, Aoba-ku, Sendai, Miyagi
TEL
0227236283
Homepage URL
jsugawara@med.tohoku.ac.jp
Sponsor or person
Institute
Tohoku Medical Megabank Organization
Institute
Department
Personal name
Funding Source
Organization
Self funding
Organization
Division
Category of Funding Organization
Self funding
Nationality of Funding Organization
Other related organizations
Co-sponsor
Name of secondary funder(s)
IRB Contact (For public release)
Organization
Tohoku Medical Megabank Organization
Address
2-1, Seiryou-machi, Aoba-ku, Sendai, Miyagi
Tel
0227236283
jsugawara@med.tohoku.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 | 04 | Month | 07 | 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
8380
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
No longer recruiting
Date of protocol fixation
| 2018 | Year | 03 | Month | 19 | Day |
Date of IRB
| 2018 | Year | 03 | Month | 29 | Day |
Anticipated trial start date
| 2018 | Year | 04 | Month | 09 | Day |
Last follow-up date
| 2022 | Year | 03 | Month | 31 | Day |
Date of closure to data entry
Date trial data considered complete
Date analysis concluded
Other
Other related information
Clarifying allele frequencies of disease-related genetic variants in a population is important in genomic medicine; however, such data is not yet available for the Japanese population.To estimate frequencies of pathogenic variants related to disorders of sex development in the Japanese population, we examined the reported pathological variants in 64 genes known diagnostic genes for disorders of sex development in our reference panel of genomic variations, 3.5KJPN, which was created by whole-genome sequencing of 3344 individuals of the resident cohort of the Tohoku Medical Megabank Project. Moreover, the carriers with pathogenic variants will be studied their blood samples about hormones associated with sex, steroid, thyroid, and so on.We will reseach relationship genetic informations and the phenotypes.
Management information
Registered date
| 2018 | Year | 04 | Month | 07 | Day |
Last modified on
| 2021 | Year | 04 | Month | 12 | Day |
Link to view the page
Value
https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000036670
