UMIN-CTR Clinical Trial
| Unique ID issued by UMIN | UMIN000045867 |
|---|---|
| Receipt number | R000052358 |
| Scientific Title | A study on the usefulness of additional analyses in cases suspected to be hereditary diseases that have not been reached a definite diagnosis by a contract genetic testing or a genetic test conducted as a research |
| Date of disclosure of the study information | 2021/10/26 |
| Last modified on | 2026/05/03 21:49:13 |
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Basic information
Public title
A study on the usefulness of additional analyses in cases suspected to be hereditary diseases that have not been reached a definite diagnosis by a contract genetic testing or a genetic test conducted as a research
Acronym
A study on the usefulness of additional analyses in cases suspected to be hereditary diseases that have not been reached a definite diagnosis by a contract genetic testing or a genetic test conducted as a research
Scientific Title
A study on the usefulness of additional analyses in cases suspected to be hereditary diseases that have not been reached a definite diagnosis by a contract genetic testing or a genetic test conducted as a research
Scientific Title:Acronym
A study on the usefulness of additional analyses in cases suspected to be hereditary diseases that have not been reached a definite diagnosis by a contract genetic testing or a genetic test conducted as a research
Region
| Japan |
Condition
Condition
hereditary diseases
Classification by specialty
| Medicine in general | Gastroenterology | Hepato-biliary-pancreatic medicine |
| Cardiology | Surgery in general | Gastrointestinal surgery |
| Hepato-biliary-pancreatic surgery | Breast surgery | Obstetrics and Gynecology |
| Pediatrics | Adult |
Classification by malignancy
Malignancy
Genomic information
YES
Objectives
Narrative objectives1
In those cases who were suspected as certain hereditary diseases, though they have not been definitely diagnosed by routine genetic testing conducted at clinical laboratories, we will conduct additional analyses to validate the pathogenicity and prove their usefulness.
Basic objectives2
Efficacy
Basic objectives -Others
Trial characteristics_1
Exploratory
Trial characteristics_2
Pragmatic
Developmental phase
Not applicable
Assessment
Primary outcomes
Frequency of cases with a definite diagnosis by additional testing among those who did not receive a definite diagnosis by a routine genetic testing
Key secondary outcomes
Base
Study type
Interventional
Study design
Basic design
Single arm
Randomization
Non-randomized
Randomization unit
Blinding
Open -no one is blinded
Control
Uncontrolled
Stratification
Dynamic allocation
Institution consideration
Blocking
Concealment
Intervention
No. of arms
1
Purpose of intervention
Diagnosis
Type of intervention
| Maneuver | Other |
Interventions/Control_1
additional genetic testing for final diagnosis
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
| 20 | years-old | <= |
Age-upper limit
| Not applicable |
Gender
Male and Female
Key inclusion criteria
Patients(who have recieved routine genetic testing)
1)who were not able to obtained difinite diagnosis by routine genetic testing
2)20 years old or above in principle
3)after receiving enough explanation of the research, they fully understand this and provide IC.
Relatives of the above patients
1)First or second relatives of the above patients
2)20 years old or above in principle
3)after receiving enough explanation of the research, they fully understand this and provide IC.
Key exclusion criteria
1)Those who are judged as not suitable for research subjects by PI
Target sample size
100
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 Clical Genetics
Zip code
1138421
Address
2-1-1, Hongo, Bunkyo-ku, Tokyo, Japan
TEL
03-3813-3111
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 Medicne
Division name
Department of Clical Genetics
Zip code
1138421
Address
2-1-1, Hongo, Bunkyo-ku, Tokyo, Japan
TEL
03-3813-3111
Homepage URL
ms-arai@juntendo.ac.jp
Sponsor or person
Institute
Juntendo University
Institute
Department
Personal name
Funding Source
Organization
Intractable Disease Research Cencter, Juntendo University Graduate School of Medicine
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
Research Ethics Committee
Address
2-1-1, Hongo, Bunkyo-ku, Tokyo, Japan
Tel
03-3813-3111
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
| 2021 | Year | 10 | Month | 26 | 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
64
Results
Additional analysis such as bisulfite sequencing in promotor region or MLPA for detecting large deletion should be performed if final diagnosis can't be reached by routine genetic testing provided by genetic testing companies.
There are pathogenic variants due to structual abnormality, which we can't find by routine commercial based genetic testing.
Results date posted
| 2023 | Year | 05 | Month | 23 | Day |
Results Delayed
Results Delay Reason
Date of the first journal publication of results
Baseline Characteristics
Participant flow
Adverse events
none
Outcome measures
Plan to share IPD
IPD sharing Plan description
Progress
Recruitment status
Open public recruiting
Date of protocol fixation
| 2021 | Year | 08 | Month | 26 | Day |
Date of IRB
| 2021 | Year | 10 | Month | 22 | Day |
Anticipated trial start date
| 2021 | Year | 10 | Month | 22 | Day |
Last follow-up date
| 2028 | Year | 03 | Month | 31 | Day |
Date of closure to data entry
| 2028 | Year | 03 | Month | 31 | Day |
Date trial data considered complete
Date analysis concluded
Other
Other related information
Management information
Registered date
| 2021 | Year | 10 | Month | 26 | Day |
Last modified on
| 2026 | Year | 05 | Month | 03 | Day |
Link to view the page
Value
https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000052358
