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Name:
UMIN ID:

Recruitment status Preinitiation
Unique ID issued by UMIN UMIN000032145
Receipt No. 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 2018/04/07

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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
Obsterics 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
Middle name
Last name Junichi Sugawara
Organization Tohoku Medical Megabank Organization
Division name Department of Community Medical Supports
Zip code
Address 2-1, Seiryou-machi, Aoba-ku, Sendai, Miyagi
TEL 0227236283
Email jsugawara@med.tohoku.ac.jp

Public contact
Name of contact person
1st name
Middle name
Last name Junichi Sugawara
Organization Tohoku Medical Megabank organization
Division name Department of Community Medical Supports
Zip code
Address 2-1, Seiryou-machi, Aoba-ku, Sendai, Miyagi
TEL 0227236283
Homepage URL
Email jsugawara@med.tohoku.ac.jp

Sponsor
Institute Tohoku Medical Megabank Organization
Institute
Department

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
Address
Tel
Email

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
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
2018 Year 03 Month 19 Day
Date of IRB
Anticipated trial start date
2018 Year 04 Month 09 Day
Last follow-up date
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
2018 Year 04 Month 07 Day


Link to view the page
URL(English) https://upload.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000036670

Research Plan
Registered date File name

Research case data specifications
Registered date File name

Research case data
Registered date File name


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